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Definition
| the complete copy of a person’s DNA |
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Term
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Definition
| a unit of genetic information encoded in the DNA; the sequence of chromosomal DNA required for production of a functional product |
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Definition
| One of the alternative versions of a gene or DNA sequence at a given locus (position) |
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Definition
| The specific location of a gene on a chromosome |
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| are thread-like structures in the nucleus (consisting of chromatin) that encode our DNA |
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| The stage that chromatin spends most of its life in |
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Definition
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| The phase in which chromatin start to condense down into chromosomes |
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Definition
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Definition
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Definition
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Definition
| the central region of a chromosome; |
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| where sister chromatids are linked |
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Definition
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| Phase in which chromosomes are best seen |
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Definition
| metaphase or prometaphase |
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| area responsible for pulling apart sister chromatids during segregation |
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Definition
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Definition
| what the P and R arms are divided by at the contromere |
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Definition
| end region of each chromosome arm |
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| number of chromosomes in human |
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Definition
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| Number of pairs of chromosomes in human |
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Definition
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| Number of Autosomal chromosomes in human |
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Definition
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Definition
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| Male sex chromosome arrangement |
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Definition
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| Female sex chromosome arrangement |
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Definition
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| How autosomal cells divide |
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Definition
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Term
| How sex germline cells divide |
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Definition
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Term
| number of chromosomes produced in Mitosis |
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Definition
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| number of chromosomes produced in Meiosis |
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Definition
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Term
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Definition
2 daughter cells with genes identical to the parent cell
somatic cells |
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Definition
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Term
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Definition
Prophase
Prometaphase
Metaphase
Anaphase
Telophase |
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Term
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Definition
| chromosome condensation and formation of mitotic spindles |
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Term
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Definition
| nuclear membrane breaks up, chromosomes attach to microtubules via kinetochores |
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Definition
| Chromosomes line up at equatorial plate |
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Definition
| Sister chromatids are pulled apart at centromere and move to opposite poles of cell |
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Definition
| Chromosomes decondense and nuclear membrane forms around 2 daughter nuclei |
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Definition
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Definition
Prophase I
Metaphase I
Anaphase I
Telophase I |
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Definition
| Crossing over causes RECOMBINATION |
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Definition
| : homologous chromosomes line up at equatorial plate |
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Definition
| homologous chromosomes separate |
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| Phase during which non disjunction can occur |
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Definition
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| Meiosis occurrence which can cause Trisomy and monomy |
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Definition
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Term
| Point at which Meiosis I is completed in female |
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Definition
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| When Meiosis II (metaphase II) occurs in female |
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Definition
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Definition
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Term
| noncoding regions of genes |
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Definition
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Term
| location of promoter region on gene |
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Definition
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| purpose of promoter region on gene |
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Definition
| regulates initiation of transcription |
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Term
| what untranslated region on 3' end codes for |
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Definition
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| Central Dogma of protein syntheis |
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Definition
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| Where transcription occurs |
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Definition
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Term
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Definition
| RNA is synthesized from DNA |
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Term
| direction in which RNA is synthesized from DNA |
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Definition
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| What happens during RNA processing |
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Definition
5' cap
Splicing of introns
Poly A Tail |
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Definition
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Term
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Definition
Transfer
Messenger
Ribosomal |
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Definition
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Definition
| contains anticodon to match to code |
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Definition
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| Extra copy of Chromosome 21 is present |
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Definition
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Term
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Definition
Down's Syndrome
Single Gene Defect
Multifractional Inheritance |
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Term
| example of single gene defect |
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Definition
cystic fibrosis
sickle cell anemia |
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Term
| example of Multifractional Inheritance |
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Definition
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Term
| number of genes in human genome |
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Definition
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Definition
| study of chromosome structure |
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Definition
| study of chromosome structure |
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Definition
| group of cells derived from a single ancestor |
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Definition
| The process of asexually producing a group of cells (clones), all genetically identical, from a single ancestor |
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Term
| Restriction enzyme, endonuclease |
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Definition
| A protein that recognizes specific, short nucleotide sequences and cuts DNA at those sites. |
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Term
| Recombinant DNA molecules |
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Definition
| A combination of DNA molecules of different origin that are joined using recombinant DNA technologies |
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Term
| Recombinant DNA technologies |
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Definition
| Procedures used to join together DNA segments in a cell- free system |
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Term
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Definition
| DNA molecule originating from a virus, a plasmid, or the cell of a higher organism into which another DNA fragment of appropriate size can be integrated without loss of the vectors capacity for self- replication |
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| most common cellular vector |
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Definition
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Term
| characteristics of southern blot |
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Definition
Uses X-Rays
Hybridization
Detects DNA |
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Definition
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Term
| Polymerase Chain Reaction (PCR) |
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Definition
Copies DNA with vectors or host cells
Doubles DNA with each cycle |
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Term
| Info obtained through karyotype analysis |
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Definition
Sex
Individual Chromosomes
Large Abnormalities |
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Term
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Definition
Chromosomal Number
Chromosomal Arrangement |
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Definition
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Term
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Definition
| Female missing an X (Turner’s Syndrome) |
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Term
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Definition
| Fluorescence In Situ Hybridization |
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Term
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Definition
Detects absence or presence of DNA segments
Finds specific DNA sequences |
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Term
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Definition
| a condition in which cells within the same person have a different genetic makeup. |
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Term
| Most common Autosomal recessive disorder in white (Caucasian) children |
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Definition
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Term
| Autosomal Dominant Disease |
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Definition
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Term
| Person Wanting a Pedigree done |
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Definition
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Term
| components of complex disease |
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Definition
| Genetic & Environmental Factors |
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Term
| percentage of genes shared by monozygotic twins |
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Definition
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Term
| percentage of genes shared by Dizygotic Twins |
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Definition
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Term
| what a 1 means in Heritability |
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Definition
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Term
| what a 0 means in Heritability |
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Definition
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Definition
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Term
| hormonal cause of obesity |
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Definition
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Term
| percentage of genes shared by you and any other human |
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Definition
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Term
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Definition
Genome
Chromosome
Gene
Dynamic |
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Term
| Most common type of mutation in humans |
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Definition
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Term
| Mutation that alters structure of chromosome |
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Definition
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Term
| Mutation often seen in cancer |
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Definition
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Term
| mutation fatal to fetus, affect number of chromosomes in cell |
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Definition
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Term
| mutations which occur at DNA level; base substitutions, insertions, deletions, duplications |
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Definition
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Term
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Definition
| Mutations that involve replacing one or more nucleotides in a DNA molecule with other nucleotides |
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Term
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Definition
| Insertions change the reading frame, changing the amino acids in the protein |
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Term
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Definition
| complete removal of nucleotide base pair-->Single gene mutation |
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Term
| types of dynamic mutations |
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Definition
trinucleotide
allelic expansion |
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Term
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Definition
| Result from intrinsic abnormalities in one or more genetic programs operating in development |
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Term
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Definition
| Caused by extrinsic factors impinging physically on the fetus during development |
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Term
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Definition
| Result from destruction of irreplaceable normal fetal tissue due to vascular insufficiency, trauma, or teratogens (Accutane) |
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Term
| When deformations are most common to occur |
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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
| when a cell acquires specific characteristics, but can still be influenced by environmental cues (signaling molecules) to change its ultimate fate |
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Term
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Definition
| a cell either irreversibly acquires attributes or has irreversibly committed to acquiring attributes |
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Term
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Definition
| when a precursor cell becomes fully differentiated |
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Term
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Definition
| cells have not yet become determined so that the cells that remain after removal of a portion of an embryo can still form a complete organism; this stage ends at gastrulation |
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Term
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Definition
| cells have already become committed to the point that removal of a portion of an embryo will not allow normal embryonic development |
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Term
| Indications for prenatal diagnosis by invasive testing |
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Definition
advanced maternal age
previous child with de novo chromosomal aneuploidy
parent with a structural chromosome abnormality
Family history of a genetic disorder that may be diagnosed or ruled out
Family history of an X-linked disorder for which there is no specific prenatal diagnostic test
Risk of a neural tube defect
Maternal serum screening and ultrasound examination |
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Term
| Invasive methods of prenatal testing |
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Definition
Chorionic villus sampling (CVS)
Amniocentesis
Cordocentesis
Pre-implantation genetic diagnosis |
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Term
| non-invasive prenatal testing |
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Definition
Maternal serum alpha-fetoprotein
First- and second-trimester maternal serum screening
Ultrasonography
Isolation of fetal cells from maternal circulation |
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Term
| role of genetic counseling for prenatal diagnosis |
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Definition
| To provide patients with information to help them understand their situation and decide whether to consent to genetic testing |
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Term
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Definition
| compares control and cancer DNA to see which genes are turned off/on in different diseases |
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Term
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Definition
| used to identify certain proteins in a tissue |
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Term
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Definition
| chromosomal number that is a multiple of the normal haploid chromosomal set. |
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Definition
| chromosomal number that is not an exact multiple of haploid set. Caused by nondisjunction |
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Term
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Definition
| differences in expression between allele inherited from mother and allele inherited from father; caused by alteration in chromatin that occur in one parents germline |
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Term
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Definition
| phenotype expressed only in homozygotes |
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Term
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Definition
| phenotype expressed in both homozygotes and heterozygotes |
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Term
| Autosomal recessive inheritance |
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Definition
| 1 normal and 1 mutant allele don’t exhibit disease |
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Term
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Definition
| Transferred to all daughters of "infected" father |
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Term
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Definition
| probability that a gene will have any phenotypic expression |
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Term
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Definition
| severity of the phenotype among individuals with same disease-causing genotype |
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Term
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Definition
a. Individuals with 1 normal allele and 1 mutant allele
Do not exhibit disease |
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Term
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Definition
Individuals with 2 mutant alleles
Are affected by the disease |
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Term
| recessive diseases, males and females are equally likely to be affected |
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Definition
| Autosomal Recessive Inheritance |
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Term
| Any child of an affected parent has a 50% risk of inheriting the trait. |
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Definition
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Term
| Affected males with normal mates have no affected sons and no normal daughters. |
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Definition
| X-Linked Dominant Inheritance |
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Term
| gastrulation layer that is the central visceral core |
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Definition
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Term
| gastrulation layer that is kidneys, heart, vasculature, bone, and muscle |
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Definition
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Term
| gastrulation layer that is central and peripheral nervous system and skin |
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Definition
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Definition
| standardized method of documenting a family history which represents relationships GRAPHICALLY |
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Term
| Clinical significance of a pedigree |
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Definition
a. It is a record of the health history of multiple generations of family.
b. It identifies inheritance patterns of diseases.
c. It is a tool for evaluating familial risk for disease.
d. It identifies situations which may need additional evaluation.
e. For unaffected individuals: it provides the opportunity for the detection of the presence of a carrier state in unaffected individuals. |
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Term
| how ages of people should be arranged in a pedigree |
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Definition
| from left to right, oldest to youngest |
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Term
| the side of the pedigree that the maternal information should be on |
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Definition
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Term
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Definition
| related to the baby’s father in any way (other than by marriage) |
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Term
| when CVS is usually performed |
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Definition
| 10th - 12th week of pregnancy |
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Term
| when amniocentesis is usually performed |
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Definition
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Term
| when cordocentesis is usually performed |
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Definition
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Term
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Definition
| Removal of amniotic fluid sample transabdominally |
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Term
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Definition
| Transcervical or transabdominal biopsy of tissue from chorionic villi |
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Term
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Definition
| Prenatal test in which a fetal blood sample is removed from the umbilical cord and tested for genetic problems or infections. |
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Term
| administration of Rh immune globulin is routine for Rh-negative women after ________ |
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Definition
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Term
| Pregnancy-associated plasma protein A (PAPP-A) – level below the normal range in ________ |
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Definition
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Term
| ii. Human chorionic gonadotropin (hCG; either as total hCG or as its free beta subunit) – _____in trisomy 21, ________in other trisomies |
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Definition
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Term
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Definition
| prevalence of a disease in relatives of affected person vs prevalence of a disease within the general population |
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Term
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Definition
| family members have the same disease |
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Term
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Definition
| one family member has disease, others do not |
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Term
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Definition
| phenotype cause by one gene mimics that of disease caused by a different gene |
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Term
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Definition
| phenotype caused by environment conditions mimic a genetic condition |
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Term
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Definition
| cluster of diseases within a family;no always genetic |
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Term
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Definition
| to look for gross changes on the chromosome |
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Term
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Definition
| repeating sequeces of 2-6 bp of DNA--> used as a molecular marker for different family/populations |
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Term
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Definition
single nucleotide polymorphism
single nucleotide in the genome (or other shared sequence) differs between members of a biological species or paired chromosomes in an individual |
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Term
| most widely used method of detecting disease association with gene |
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Definition
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Term
| What information a Karyotype gives |
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Definition
Number of chromosomes
Sex chromosome content (XX or XY)
Presence or abnormal individual chromosomes
Nature and extent of large structural abnormalities |
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