Term
|
Definition
| one of the different forms of a gene that can exist at a single locus |
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|
Term
|
Definition
| any chromosome that is not a sex chromosome |
|
|
Term
|
Definition
| requires only one affected of the pair of genes for disease to occur (AD zygotes usually leathal) |
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Term
|
Definition
| requires two affected homologous genes for disease to occur |
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Term
|
Definition
| those in which there is no net loss or gain of genetic material |
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Term
|
Definition
| a densely staining mass that represents an inactivated X chromosome |
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Term
|
Definition
| an individual organism that possesses a mutant allele but does not express it in the phenotype, because of a dominant allelic partner; thus an individual of genotype A/a is a carrier of a if there is complete dominance of A over a. |
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|
Term
| Chronic Villus sampling (CVS) |
|
Definition
| a placental sampling procedure for obtaining fetal tissue for chromosome and DNA analysis to assist in prenatal diagnosis of genetic disorders. |
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Term
|
Definition
| one of the two side-by-side replicas produced by chromosome division. |
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Term
|
Definition
| - a linear end-to-end arrangement of genes and other DNA, sometimes with associated protein and RNA |
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|
Term
|
Definition
| a situation in which a heterozygote shows the phenotypic effects of both alleles equally. |
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Term
|
Definition
| a section of DNA (three nucleotide pairs in length) that encodes a single amino acid |
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Term
|
Definition
| mating of blood relatives (inbreeding) |
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Term
|
Definition
| - the exchange of corresponding chromosomes parts between homologs by breakage and reunion. |
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Term
|
Definition
| two identical cells formed by the asexual division of a cell. |
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Term
|
Definition
| the removal of a chromosomal segment from a chromosome set. |
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|
Term
|
Definition
| a cell having two chromosome sets or an individual organism having two chromosome sets in each of its cells |
|
|
Term
|
Definition
| (deoxyribonucleic acid)- a double chain of linked nucleotides; the fundamental substance of which genes are composed |
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|
Term
|
Definition
| an allele that expressed its phenotype effect even when heterozygous with a recessive allele; thus, if A is dominant over a, the A/A and A/a have |
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Term
|
Definition
| an abnormal human phenotype, including mental retardation, due to a trisomy of chromosome 21; more common in babies born to older mothers |
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Term
|
Definition
| more than one copy of a particular chromosomal segment in a chromosome set. |
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Term
|
Definition
| any nonintron section of the coding sequence of a gene; together, the exons correspond to the mRNA that is translated into protein |
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Term
|
Definition
| the degree to which a particular genotype is expressed in the phenotype. |
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|
Term
| Flourescence in situ hybridization (FISH) |
|
Definition
| in situ hybridization with the use of a probe coupled with a fluorescent molecule. |
|
|
Term
|
Definition
| the fundamental physical and functional unit of heredity, which carries information from one generation to the next; a segment of DNA composed of a transcribed region and a regulatory sequence that makes transcription possible |
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Term
|
Definition
| the entire complement of genetic material in a chromosome set. |
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|
Term
|
Definition
| the specific allelic composition of a cell- either of the entire cell or more commonly of a certain gene or a set of genes |
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|
Term
|
Definition
| a gene present in only one copy in a diploid organism- for example, an X linked gene in a male mammal. |
|
|
Term
|
Definition
| a gene pair having different alleles in the two chromosome sets of the diploid individual- for example, A/a or A1/A2. |
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|
Term
|
Definition
| refers to the state of carrying a pair of identical alleles at one locus. |
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|
Term
|
Definition
| refers to a genotype such as A/A |
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|
Term
|
Definition
| refers to a genotype such as a/a |
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|
Term
|
Definition
| modification of a gene as it is transmitted through either parent during meiosis |
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|
Term
|
Definition
| a segment of largely unknown function within a gene. This segment is initially transcribed, but the transcript is not found in the functional mRNA. |
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|
Term
|
Definition
| an abnormal human male phenotype die to an extra X chromosome. |
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|
Term
|
Definition
| - two successive nuclear divisions that produce gametes or sexual spores that have one-half life of the genetic material of the original cell. |
|
|
Term
|
Definition
| a type of nuclear division that produces two daughter nuclei identical with the parent nucleus. |
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Term
|
Definition
| a chimer; a tissure containing two or more genetically distinct cell types or an individual organism composed of such tissue |
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|
Term
|
Definition
| the occurrence of two or more cell lines with different genetic or chromosomal constitutions. If somatic, usually results in milder (or segmental) phenotype |
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|
Term
|
Definition
| an RNA molecule transcribed from the DNA of a gene, a protein is translated from this RNA molecule by the action of ribosomes, |
|
|
Term
|
Definition
| an allele differing from the allele found in the standard wild-type. |
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Term
|
Definition
| - the failure of homologs or sister chromatids to separate properly to opposite poles. |
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Term
|
Definition
| a gain of function mutation that contributes to the production of a cancer |
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|
Term
|
Definition
| a “family tree” drawn with standard genetic symbols showing inheritance patterns for specific phenotypic characters. |
|
|
Term
|
Definition
| the proportion of individuals with a specific genotype who manifest that genotype at the phenotype level. |
|
|
Term
|
Definition
| the form taken by some character in a specific individual. The detectable outward manifestations of a specific genotype. |
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|
Term
|
Definition
| a mutation that can be mapped to a specific locus |
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|
Term
|
Definition
| the normal cellular counterpart of a gene that can be mutated to become a dominant oncogene. |
|
|
Term
|
Definition
| - an allele whose phenotypic effect is not expressed in a heterozygote |
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|
Term
|
Definition
| the most popular method of DNA sequencing. It uses dideoxynucleotide triphosphates mixed with standard nucleotide triphosphates to produce a ladder of DNA stands whose synthesis is blocked at different length. This method has been incorporated into automated SNA-synthesis machines |
|
|
Term
|
Definition
| a mutation that has no effect of the function of a gene product. |
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|
Term
|
Definition
| the synthesis of RNA from a DNA template |
|
|
Term
|
Definition
| the ribosome and tRNA mediated production of a polypeptide whose amino acid sequence is derived from the codon sequence of an mRNA molecule. |
|
|
Term
|
Definition
| the relocation of a chromosomal segment to a different position in the genome. |
|
|
Term
|
Definition
| basically a diploid with an extra chromosome of one type, producing a chromosome number in the form of 2n+1 |
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|
Term
|
Definition
| an abnormal human female phenotype produced by the presence of only one X chromosome (XO). |
|
|
Term
|
Definition
| a rearrangement in which chromosomal material is gained or lost in one chromosome set. |
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|
Term
| X chromosome inactivation |
|
Definition
| the process by which the genes of an X chromosome in a mammal can be completely repressed as part of the dosage-compensation mechanism. |
|
|
Term
| 2. This federal law was passed in 2008 (effective in May/Nov 09) and prohibits genetic discrimination in all health insurance plans and employment? |
|
Definition
|
|
Term
| 3. How many states have passed laws that prevent insurers from requiring a genetic test or requesting results from a previous genetic test? |
|
Definition
|
|
Term
| What website allows you to find genetic counselors in your area? |
|
Definition
|
|
Term
| This website has GeneReviews, Lab directory, clinic directory, and educational materials? |
|
Definition
|
|
Term
| What is found under GENEREVIEWS? |
|
Definition
| Genetic disease descriptions, current info on genetic test use in diagnosis management, genetic counseling. Links to genomic databases, pt resources, PubMed citations, policy statements/guidelines |
|
|
Term
| This website is known as the online mendelian inheritance in man at Johns Hopkins University? |
|
Definition
|
|
Term
| This is an “organization of organizations” committed to a national effort to promote health professional education and access to information about the advances in human genetics to improve the health care of the nation? |
|
Definition
|
|
Term
| This is the numer of recognized disorders |
|
Definition
|
|
Term
| How many Americans are affected with disorders? |
|
Definition
|
|
Term
| Percentage of births that involve a significant birth defects? |
|
Definition
|
|
Term
| Percentage of infant deaths that are due to genetics disorders |
|
Definition
|
|
Term
| Percentage of post neonatal deaths that are due to congenital malformations |
|
Definition
|
|
Term
| Ratio of adults that have a genetics condition? |
|
Definition
|
|
Term
| What percentage of all chronic diseases such as heart conditions, cancer, diabetes, and arthritis have significant genetic component |
|
Definition
|
|
Term
| What percentage of individuals with mental retardation have a genetic basis for their disability |
|
Definition
|
|
Term
| What percent of pediatric hospital admissions are due to genetics disorders |
|
Definition
|
|
Term
| What percent of pediatric hospital admissions are due to congenital malformations? |
|
Definition
|
|
Term
| What percent of adult hospital admissions are for genetics causes? |
|
Definition
|
|
Term
| Training and qualifications of a genetic counselor? |
|
Definition
| masters degree from accredited program, national certification, frequently credentialed by employer |
|
|
Term
| What states offer licensure for genetic counselors |
|
Definition
|
|
Term
| This is one of the threadlike structures in the cell nucleus that consists of chromatin and contains DNA |
|
Definition
|
|
Term
| What does each chromosome consist of? |
|
Definition
| Double stranded DNA (sister chromatid) coiled in a helix and attached to a protein base |
|
|
Term
| What is the protein base of a chromosome called? |
|
Definition
|
|
Term
| What does each strand of DNA contain? |
|
Definition
| A compliment of the same genes |
|
|
Term
| What are the 2 arms of the chromosome attached? |
|
Definition
|
|
Term
| What are the short and long arms of the centromere known as? |
|
Definition
|
|
Term
|
Definition
| Linear pattern along the entire length of each DNA strand |
|
|
Term
| When chromosomes undergo self replication what do they produce? |
|
Definition
|
|
Term
| What happens to these chromatids during mitosis? |
|
Definition
| They separate and each new cell receives a full set of chromosomes |
|
|
Term
| How many chromosome pairs are in the human genome? |
|
Definition
|
|
Term
| What is the makeup of the 23 pairs? |
|
Definition
| 22 homologous pairs of autosomes and 1 pair of sex chromosomes |
|
|
Term
| Where does the one pair of sex chromosomes come from? |
|
Definition
| One member from each pair derived from each parent |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Position of sex genes on the chromosome? |
|
Definition
|
|
Term
| This is the complete DNA sequence containing the entire genetic information, of a gamete, an individual, a population or specie? |
|
Definition
|
|
Term
| A hereditary unit in molecular terms a sequence of chromosomal DNA that is required for the production of a functional protein? |
|
Definition
|
|
Term
| How many genes are in the human genome? |
|
Definition
|
|
Term
| Is a gene capable of self replication? |
|
Definition
| Yes, its a particular sequence of nucleotides within a DNA molecule |
|
|
Term
| Make sure you know what Adenlyic Acid looks like |
|
Definition
|
|
Term
| Make sure you know what adenine looks like |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What is the structure of DNA? |
|
Definition
| Sugar groups on the side and bases in the middle, phopshate groups linking the sugars |
|
|
Term
| What is the central dogma of genetics? |
|
Definition
| Information frlow from DNA -> RNA -> Protien |
|
|
Term
| What is the flow from DNA to protein? |
|
Definition
| DNA transcription, RNA translation, Protein |
|
|
Term
| Know what Karyotype of 45 XY looks like |
|
Definition
|
|
Term
| This is the primary genetic material in all organisms composed of 2 twised polynecleotide strands |
|
Definition
|
|
Term
| This is a nucleic acid found in both the nucleus and cytoplasm of cells that transmits genetic instructions from the nucleus to the cytoplasm |
|
Definition
|
|
Term
| What is the function of RNA in the cytoplasm? |
|
Definition
|
|
Term
| What are the 3 types of RNA? |
|
Definition
|
|
Term
| This is 85% of the total cellular RNA and is associated with ribosomes |
|
Definition
|
|
Term
| This is 10% of the total cellular RNA and provides the essential specificity required for insertion of correct amino acid into the protein that is being synthesized |
|
Definition
|
|
Term
| This is 5% of the total cellular RNA and acts as the carrier of genetic info from the DNA to ribosomes |
|
Definition
|
|
Term
| What is thymine replaced by in the RNA? |
|
Definition
|
|
Term
| These are "extra" pieces of DNA that do NOT appear in the mRNA and do NOT become part of the protein |
|
Definition
|
|
Term
| What are introns also known as? |
|
Definition
|
|
Term
| The pieces of DNA that make up mRNA and are translated into functional proteins? |
|
Definition
|
|
Term
| The 3 bases in mRNA that specify a particular amino acid during translation |
|
Definition
|
|
Term
| What does mitosis produce? |
|
Definition
| Daughter cells identical to parent cells (2n to 2n) |
|
|
Term
| What is the result of meiosis? |
|
Definition
| Genetic varation by suffling of maternal and paternal chromosomes and crossing over |
|
|
Term
| Are the daughter cells formed during MEIOSIS genetically idential to mother or father? |
|
Definition
|
|
Term
| During sexual reproduction what produces unique offspring? |
|
Definition
| Fusion of unique haploid gametes |
|
|
Term
| Genetic variants that change the func of a gene? |
|
Definition
|
|
Term
| What are 2 environmental factors that contribute to mutations? |
|
Definition
|
|
Term
|
Definition
| At random, inherited, NOT ALL are expressed |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Deletions/insertions that are NOT a multiple of 3? |
|
Definition
|
|
Term
| Inversion balanced or unbalanced rearrangement of chromosome |
|
Definition
|
|
Term
| What are the 3 types of base substitutions/point mutations? |
|
Definition
| Silent, missense, nonsense |
|
|
Term
| Changes that nucleotide sequence but amino acid sequence remains the same? |
|
Definition
|
|
Term
| Changes in the nucleotide sequence that changes the amino acid sequence |
|
Definition
|
|
Term
| Changes in the nucleotide sequence and inserts a STOP codon |
|
Definition
|
|
Term
| What percentage of genes in the human cell are expressed? |
|
Definition
|
|
Term
| Repeat sequences of DNA are being duplicated, they get misaligned and a different number of copies is the result? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Observable physical/biochemical characteristics of the expression of a gene? |
|
Definition
|
|
Term
| Clinical presentation of an individual with a particular genotype? |
|
Definition
|
|
Term
| When should you do a pedigree? |
|
Definition
| History of 3 or more miscarriages, working with a family with a poss chromosome abnormality, other family members are affected, high risk ethnic groups, consanguineous relationship |
|
|
Term
| This is a free tool available for download from the US dept of Health and human services? |
|
Definition
| Surgeon general family history intiative |
|
|
Term
| What is the patient known as in the pedigree? |
|
Definition
|
|
Term
| How are generations numbered on a pedigree? |
|
Definition
|
|
Term
| How are individuals numbered? |
|
Definition
|
|
Term
| What side of the pedigree does the paternal portion belong on? |
|
Definition
|
|
Term
| What info should be marked on the pedigree? |
|
Definition
| Name, DOB, health info, age, at dx or age at onset, cause of death |
|
|
Term
| Requires 2 affected homologous genes for disease to occur? |
|
Definition
| Autosomal recessive disease |
|
|
Term
| Individuals with one normal and one mutated gene are known as? |
|
Definition
|
|
Term
| This requires only one affected of genes for diseae to occur? |
|
Definition
|
|
Term
| Which combo of AD is usually lethal? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| THe occurrence of 2 or more cell lines with different genetic or chromosomal constitutions |
|
Definition
|
|
Term
| This mutation is confined to a portion of germ cells and can be transmitted to offspring? |
|
Definition
|
|
Term
| This has normal and abnormal cell lines within the cells of the body, cannot be transmitted to offspring unless present in germline? |
|
Definition
|
|
Term
| Which form of mosaicism results in a milder/segmental phenotype? |
|
Definition
|
|
Term
| A gene alteration that is prsent for the first time in one family member as a result of egg or sperm mutation in one? |
|
Definition
|
|
Term
| What are d novo mutations common in? |
|
Definition
| AD and x-linked disorders |
|
|
Term
| What is linked to autosomal dominant de novo mutations in offspring? |
|
Definition
|
|
Term
| What sex are hemizygous for all genes on the X |
|
Definition
|
|
Term
| What chromosomes do sons inherit from their father? |
|
Definition
|
|
Term
| What chromosome will daughters always inherit from their father? |
|
Definition
|
|
Term
| What are genes on the x chromosome called? |
|
Definition
|
|
Term
| The disease has Gower's maneuver, progressive myopathy, gait abnormality, and the inability to walk? |
|
Definition
|
|
Term
| What gene is associated with DMD? |
|
Definition
|
|
Term
| What substance in absent or partially present in dystrophy |
|
Definition
|
|
Term
| In an x-recessve affected male, what will happen to his daughters? |
|
Definition
| All daughters are affected |
|
|
Term
| A method for determining possible offsrping genotype/phenotype outcomes given parental genotype/phenotype |
|
Definition
|
|
Term
| Roughly 4x more common than recessive traits? |
|
Definition
|
|
Term
| How many dominant alleles need to be present for a trait to be expressed? |
|
Definition
|
|
Term
| How many alleles must be present for a recessive trait to show up? |
|
Definition
|
|
Term
| 2 different alleles in a gene pair? |
|
Definition
|
|
Term
| 2 identical alleles in a gene pair? |
|
Definition
|
|
Term
| Unbalanced chromosomes where 1 copy of a particular gene is missing? |
|
Definition
|
|
Term
| Result of environmental factors acting on a predisposing genetic background |
|
Definition
|
|
Term
| Genetic disorders dx by PE alone (based on 2/6 requirements |
|
Definition
|
|
Term
| G6PD deficiency dx with what? |
|
Definition
|
|
Term
| Dx with newborn screening tests |
|
Definition
| PKU, congenital hypothyroidism, sickle cell, glactosemis |
|
|
Term
|
Definition
| AFP (elevated in neural tube defects |
|
|
Term
|
Definition
| tay sachs, CF, fragile X, congenital adrenal hyperplasia, DMD |
|
|
Term
|
Definition
| BRCA1, BRCA2, Huntingtons |
|
|
Term
|
Definition
| From centomeres to telomeres |
|
|
Term
| How are bands classified? |
|
Definition
| Position of the centomere (metacenric, submeacentric, acrocenric) |
|
|
Term
| Extra or missing chromosomes assoc with spontaneous abortion and birth defects |
|
Definition
|
|
Term
| Structural chromosomes abnormalities divided into what? |
|
Definition
|
|
Term
| Extra/missing chromosomes portions assoc with birth defects? |
|
Definition
|
|
Term
| Misplaced chromosomes portions assoc with phenotype in carrier but coud lead to abnormalities in offspring |
|
Definition
|
|
Term
| What causes deletion and duplications? |
|
Definition
| Breakage and unequal crossing over |
|
|
Term
| Deletions vs duplications which is less harmful? |
|
Definition
|
|
Term
| Technique that uses an enzymatic procedure to syntehsize DNA chains of varying length in 4 different reactions |
|
Definition
|
|
Term
| What is sanger sequencing used for? |
|
Definition
| To find a mutation anywhere along a given gene (gene by gene) |
|
|
Term
| What is the most common sequencing tech of the lsat decade? |
|
Definition
|
|
Term
| Mapping a gene by molecular hybridization of a cloned DNA sequence? |
|
Definition
|
|
Term
|
Definition
| Microdeletions-william-syndrome (22q11.2) micro translocations-wolf hirschhorn syndrome, cancer-tumor studies |
|
|
Term
| Who do you refer for genetic testing? |
|
Definition
| >35 maternal age, nuchal translucency, abnormal serum marker, fetal ab on prenatal US, personal or family hx (known or suspected birth defect, genetic disorder, chromosome abnormality, family hx of mental retardation, medical condition known to affect fetal development. |
|
|
Term
| What is the background risk (liveborns) for congenital defects needing medical intervention |
|
Definition
|
|
Term
| Most common birth defects? |
|
Definition
| Congenital heart, neural tube (spina bifida), cleft/lip palate |
|
|
Term
| Maternal age related chromosomal abnormalities |
|
Definition
|
|
Term
| What foods to avoid in pregnancy? |
|
Definition
| Raw fish (take folic acid) |
|
|
Term
| This can only be utilized if there is a KNOWN genetic mutation in one of the parents or of aneuploidy |
|
Definition
|
|
Term
|
Definition
| Single gene disorders, anticipated chromosomes aneuploidies |
|
|
Term
| 1st trimester screening what do you look for? |
|
Definition
|
|
Term
|
Definition
| trisomy 21, 18 and neural tube defects |
|
|
Term
| What are maternal serum screening used for? |
|
Definition
| Not diagnostic, gives an individual risk estimate |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| What screening is done at 10-13 weeks gestation? |
|
Definition
|
|
Term
| Prenatal screening >15 weeks gestation? |
|
Definition
|
|
Term
| What do screening tests accomplish? |
|
Definition
| Provide an individual risk |
|
|
Term
| What tests tell you for certain if the baby has a chromosome abnormality? |
|
Definition
|
|
Term
| What does an increased NT tell you? |
|
Definition
| Increased risk for downs syndrome |
|
|
Term
|
Definition
| Blood tests (8-14) US (11-14) |
|
|
Term
|
Definition
| Triple/Quad screen (15-22) Comprehensive US (18-22) |
|
|
Term
| What are the chances of Downs syndrome being found on a blood test? |
|
Definition
|
|
Term
| Chances of downs syndrome being found on US? |
|
Definition
|
|
Term
| What percentage of downs syndrom will show up on blood + US |
|
Definition
|
|
Term
| 2nd Trimester downs found in blood test? |
|
Definition
|
|
Term
| What 2 tests def tell a woman whether her child has downs? |
|
Definition
|
|
Term
| Risk of miscarriage in CVS |
|
Definition
|
|
Term
| What is the most common autosomal chromosomal syndrome? |
|
Definition
|
|
Term
| The only autosomal trisomy compatible with survival into adult life? |
|
Definition
|
|
Term
| Major clinical problems of Downs? |
|
Definition
| Mental restardation, GI obstruction, congen heart defects,risk of leukemia |
|
|
Term
| Minor dysmorphic features of downs? |
|
Definition
| Upslanting palepbral fissures, epicanthic fold, protruding tongue, low nose bridge, simian crease |
|
|
Term
| Where does the trisomy come from? |
|
Definition
| Maternal, Meiosis 1 error |
|
|
Term
| Triomies compatible with life? |
|
Definition
| 21, 18, 13 and aneuploidy |
|
|
Term
| What are carriers of Robertsonian translocations invovling chrom 21 at risk for? |
|
Definition
|
|
Term
| This is known as monosomy X |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What population is Klinefelters popular in? |
|
Definition
| Infertile males, oligospermia, and azoospermia |
|
|
Term
| Clinical features of Klinefelter: |
|
Definition
| Infertility gynecomastia, long limbs, anarrow shoulders, and chest learning disabilities @ puberty testicles remain small and secondary sex charac are incomplete |
|
|
Term
| How many x chromosomes will be active in Klinefelters? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| When does X activation occur in female somatic cells? |
|
Definition
| Blastocyst stage, it is random and clonal |
|
|
Term
| Which hypothesis states that in every cell all X chromosomes (except for 1 will be inactive? |
|
Definition
|
|
Term
| What is 70% of Turners syndrome due to? |
|
Definition
| Error in paternal gametogensis (remaining X chromosome is maternal) |
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Term
| What is the most common CHROMOSOMAL CAUSE of spontaneous abortion? |
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Definition
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Term
| What hapepens with turner pregnancies? |
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Definition
| It is compatible with life but many will miscarry |
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Term
| Clinical features of Turner? |
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Definition
| Infertility, underdevelopent of sexual charac, short stature, webbed neck, edema of dorsum of the hand and feet, deep set hyperconvex nails, triangle shaped face, heart defects, horseshoe kidney |
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Term
| What is the most common genetic cause of mental impairment? |
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Definition
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Term
| What is the incidence of Fragile X? |
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Definition
| 1:1000-1:3600 males, 1:4000-1:600 females |
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Term
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Definition
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Term
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Definition
| Mental retardation, learning disablities, autistic like behaviors (hand flapping, poor eye contact, self abuse) anxiet unstable moods behavior problems ADD/ADHD, obliivious to danger, seizsures, loose joints, large ears, long face |
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Term
| What 3 DNA bases are repeated in triplet repeats? |
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Definition
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Term
| What happens when triplet repeats go beyond what they should? |
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Definition
| Certain genetic conditions may occur |
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Term
| What diseases are common with triplet repeat expansion? |
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Definition
| Fragile X, Huntingtons , myotonic, dystrophy, friedreich's Ataxia |
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Term
| Number of DNA base repetition in an affected individual with Fragile X? |
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Definition
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Term
| Permutation carrier rates in Fragile X? |
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Definition
| 1:250 females and 1:800 males |
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Term
| Subfertility implications for permutation carriers: |
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Definition
| high tech interventions, child-free living, adoption |
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Term
| Women who can achieve preg implication for permutation carriers? |
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Definition
| Preimplantation genetic dx, ue of egg donors, embryo adoption, standard prenatal dx |
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Term
| Autosomal recessive disorders that are ethnic associated? |
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Definition
| Sickle cell, cystic fibrosis PKU |
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Term
| Where is the CFTR gene located? |
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Definition
| 7q31.2 discovered in 1989, 27 exons |
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Term
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Definition
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Term
| This is a channel that regulates transport of chloride ion |
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Definition
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Term
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Definition
| Caucasians (incidence 1:2500 carrier rate 1:25) |
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Term
| What will you seein a pt with CF? |
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Definition
| Chronic resp problems, pancreatic insufficiency, poor growth, infertility in 95% of males |
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Term
| What is the gold standard screening/diagnostic test in CF? |
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Definition
|
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Term
| What newborn screening helps dx CF? |
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Definition
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Term
| This is an inherited disease that affects a protein inside RBC's called hemoglobin |
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Definition
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Term
| What causes the change in shape of RBC in sickle cell? |
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Definition
| Blood 02 lower, exercise, stress |
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Term
| When are problems with sickle cell noticed? |
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Definition
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Term
| Who can get sickle cell disease? |
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Definition
| Parents of a child both have sickle cell disease or trait |
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Term
| What population is more commonly affected with sickle cell? |
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Definition
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Term
| What other cultures are known to have sickle cell? |
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Definition
| Hispanic, greek, italitan, arabic, asain, indian |
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Term
| How many babies are born with sickle cell in the US? |
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Definition
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Term
| What are the other names for 22q11 deletion syndrome? |
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Definition
| Digeorge, Velocardiofacial, Cat Eye |
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Term
| Clinical manifestations of 22q11 deletion? |
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Definition
| Mild craniofacial abnormalities, slow development, palatal problems, mental retardation, heart defects |
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Term
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Definition
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Term
| What is usually deleted with this syndrome? |
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
| What type of pattern in dwarfism? |
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Definition
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Term
| How much breast cancer is hereditary? |
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Definition
|
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Term
| What is a majority of breast cancer? |
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Definition
|
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Term
| How to tell if it is familiar cancer? |
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Definition
| 2 or more affected 1st or 2nd degree relatives |
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Term
| Most cancer syndromes are what? |
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Definition
|
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Term
| Who can pass a cancer susceptiblity gene? |
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Definition
|
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Term
| Risk factors for Breast/Ovarian cancer: |
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Definition
| FH, ADH, LCIS, elevated gail/Claus |
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Term
| BRCA1 tumor suppressor gene, what leads to cancer? |
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Definition
| A second mutation or loss |
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Term
| What is the BRCA1 Two his hypothesis? |
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Definition
| The first his is inherited from father and the second occurs somatically (BRCA1 no longer working) |
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Term
| Recommended Breast Cancer Screening for BRCA carriers: |
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Definition
| self breast exam monthly @ age 20, clinical breast exam 6 months @ 25, annual MMG and breast MRI @ age 25 |
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Term
| What option do carriers for BRCA1/2 have? |
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Definition
| Prophylactic bilateral mastectomy |
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Term
| What is recommended for ovarian cancer? |
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Definition
| BSO when child bearing is complete or by age 35-40 (BRCA1) or 40-45 (BRCA2) |
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Term
| Other screening for BRCA1/2 carriers: |
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Definition
| colonoscopy @ 50 (every 3-5 years), pancreatic screening, women: annual pap starting @ 18, men: annual PSA and DRE @ 40-45 |
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Term
| Leading cause of sporadic ovarian cancer? 70% BRCA1 |
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Definition
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Term
| Most common population that is affected with CRC? |
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Definition
| 90% of cases are ppl OVER 50 |
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Term
| What is the average age of colon cancer dx? |
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Definition
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Term
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Definition
|
|
Term
| What disease has the highest risk of developing CRC? |
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Definition
|
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Term
| This is extra tissue taht gros in the colon |
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Definition
|
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Term
| This is a benign polyp with the potential to become cancerous? |
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Definition
| Adenomatous polyp (adenoma) |
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Term
| What are 95% of HNPCC tumors associated with? |
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Definition
| Microsatellite instability (MSI) |
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Term
| What is the age of HNPCC onset? |
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Definition
|
|
Term
| What type of colon cancer predominates? |
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Definition
|
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Term
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Definition
| Uterine, stomach, renal pelvis/ureter, ovary, billary tract, sebaceous glands, smal bowel, brain |
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Term
| 117. What are you testing for with HNPCC? |
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Definition
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Term
| 118. What is an important component for large deletions? |
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Definition
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Term
| 119. What is the recommendation for someone whose family member has a dx of colon cancer? |
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Definition
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Term
| 120. What should be done if the pt has a hx of ureter cancer? |
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Definition
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Term
| 121. What will you find in a pt with Attenuated FAP? |
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Definition
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Term
| Mutation associated with atten FAP? |
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Definition
| 20-100 polyps, autosomal dominant |
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Term
| Indications for APC gene testing? |
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Definition
| Dx FAP in pts with polyposis (>100 adenomas), atten FAP, predictive testing for FAP in blood, relatives with FAP or APC mutations |
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Term
| Where do all cancers arise from? |
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Definition
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Term
| What is the most useful clinical resource for managing cardiac disorders? |
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Definition
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Term
| This is a heart rhythm disorder, mutations in >10 genes can be causaive, and can be caused by some meds? |
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Definition
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Term
|
Definition
| lifestyle modification, medication avoidance, implantable defibrillator |
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Term
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Definition
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Term
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Definition
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Term
| What will a pt with LQTS experience? |
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Definition
| Near drowning events, exercise or emotional stress |
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Term
| Causes of death consistent with arrhythmia syndromes? |
|
Definition
| premature sudden death (ARVD), sudden infant death syndrome (LQTS), drowning (LQTS) |
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Term
| his is characterized by LV enlargement, thin wall thickness, depressed LV systolic function? |
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Definition
|
|
Term
| Phenotype characteristics of DCM? |
|
Definition
| incomplete, age-dependent penetrance, variable expression |
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|
Term
| What medications should be used to tx DCM? |
|
Definition
| ACEI, Beta blockers, ICD (for advanced- diuretics, inotropes, end stage-ventricular assist devices/cardiac transplantation) |
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|
Term
1. Independence; the right to make choices for oneself? Autonomy
2. Do no harm? Non-maleficence
3. Doing good/what is right? Beneficence
4. Being fair to all? Justice
5. Adherence to the truth? Veracity |
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Definition
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