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Definition
| The study of the organization and function of the complete genetic material of an organism (i.e. the genome is the entire DNA sequence) |
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Definition
| The study of the structure and function of the complete set of proteins encoded by the genome. |
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| An all-or-none term indicating the frequency of expression of a genotype. May or may not show up in phenotype. |
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Definition
| Any change in the nucleotide sequence or arrangement of DNA. (can alter # of chromosomes, structure of chromosomes, individual genes.) |
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| The extent to which a trait is manifest that can range in expressiveness from mild to severe. This always shows up in both genotype and phenotype, it's just a question of how bad. |
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Definition
| Extra or missing autosomal chromosome |
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Definition
| Extra or missing X chromosome. |
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Definition
| Missing a chromosome in a pair |
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| Extra chromosome in a pair |
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Definition
| Progeny receives a mixture of both wild type and mutated mitochondrial DNA |
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Definition
| Progeny receives all mutated or all normal mitochondrial DNA |
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Definition
| Phenomenon observed in family studies in which phenotype appears progressively worse in subsequent generations (at younger age, with increases severity, increased rate of disease progression, combo of effects may occur) |
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Definition
| Parent-of-origin diferentially effects phenotype even though genotype is the same. The phenotype is different depending on which parent passes on the mutation. |
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Definition
| Both alleles come from 1 parent, none from the other, by inheriting both a homologous pair or segments of a homologous pair |
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Definition
| Alteration in the genetic constitution of the reproductive cells that can allow a homozygous normal mother to give birth to a male with an X-linked disorder. (Normally requires heterozygous mother) |
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Definition
| Process of transferring DNA, RNA, or proteins from an electrophoresis gel to a special type of paper |
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Term
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Definition
| Transferring DNA from gel to paper |
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Definition
| Transferring RNA from gel to paper |
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Definition
| Transferring proteins from gel to paper; major difference is that this one uses antibody probes and colormetric (color) measures |
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Term
| Restriction endonucleases (restriction enzymes) |
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Definition
| Enzymes that recognize specific dsDNA sequences and cut each strand at that site |
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Definition
| Part of DNA recognized and cut by restriction endonucleases |
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Definition
| The process of heating dsDNA until it splits into 2 single strands |
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Definition
| A method for separating DNA fragments on a gel using an electric current |
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Definition
| Method of detecting DNA in a membrane using a complementary DNA probe |
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Definition
| Chemical added to southern blot allowing visualization of gel bands under UV light |
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Definition
| Incubation of a blot with a probe, commonly radioactive |
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Definition
| Transferring protein-DNA from gel to paper |
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Definition
| Transferring protein-protein from gel to paper |
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Term
| RFLP (Restriction Fragment Length Polymorphism Analysis) |
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Definition
| Electrophoretic method that uses restriction enzymes to differentiate between normal DNA and polymorphisms; relies on size of DNA fragment for differentiation |
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| SSCP (Single Strand Conformation Polymorphism) |
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Definition
| Eletrophoretic method that separates the DNA by conformation rather than size; used to differentiate between normal and polymorphic DNA; **especially important in SNP analysis because 1 nucleotide difference can lead to conformation change and detection by this process. |
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Term
| SNP (Single-Nucleotide Polymorphism) |
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Definition
| Class of polymorphism occurring when a single nucleotide — A, T, C or G — in the genome(or other shared sequence) differs between members of a biological speciess or paired chromosomes in an individual. |
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Definition
| A DNA molecule used as a vehicle to transfer foreign genetic material into another cell; A structure with DNA that can replicate autonomously and from which specific DNA sequences can later be isolated in pure form. |
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Definition
| DNA that has been made from mRNA and lacks introns |
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Term
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Definition
| Short DNA sequences that are complementary to a short sequence upstream of the sequence of interest |
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Definition
| Undifferentiated cells that have the genetic capability to create any type of cell and/or tissue in the body from which they originate |
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Definition
| Direct DNA sequencing method that uses dNTPs/ddNTPs, primers, and polymerases and allows high throughput DNA sequencing |
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Definition
| A short sub-sequence of a cDNA sequence that may be used to identify gene transcripts, and are instrumental in gene discovery and gene sequence determination. These are used to solve the problem that only 5% of the genes in the human genome are expressed. |
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Definition
| A DNA molecule that is separate from, and can replicate independently of, the chromosomal DNA; cDNA is cloned into this following its formation from mRNA |
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Definition
| Combined sequences formed from overlapping segments of the multi-length DNA of expressed sequence tags |
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Definition
| Genetic variation that exists in greater than 1% of the population |
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Definition
| Non-hereditary, environmental mutation acquired after birth |
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Definition
| Class of polymorphism that is characterized by small insertions and deletions in DNA that may be more than on base pair |
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Term
| STR (Tandem Repeat Sequences) |
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Definition
| Class of polymorphism that is characterized by small portions of DNA sequences repeated variable times (~1-20 base pairs) |
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Term
| Randomly Amplified Polymorphic DNA |
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Definition
| Class of polymorphism that is characterized by random sequences of DNA amplified by variable amounts (100s of base pairs) |
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Definition
| Repetitive sequences (tandem repeats) of DNA composed of 1-5 base pairs; found in intergenic (trash) area of DNA and considered the most important marker for gene mapping and linkage analysis studies |
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Term
| TDT Activity (Terminal Deoxynucleotidyl Transferase) |
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Definition
| Problem with taq polymerase where it can add deoxynucleotides onto the end of an elongating DNA strand |
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Term
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Definition
| Problem with taq polymerase where it slips during amplification resulting in insertion or deletion of base pairs. |
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Term
| MSI-H (Microsatellite Instability High) |
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Definition
| 2-5 of the panel loci on a microstellite analysis are unstable |
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Term
| MSI-L (Microsatellite Instability Low) |
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Definition
| 1 of the panel loci on a microstellite analysis is unstable |
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Term
| MSS (Microsatellite Stable) |
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Definition
| None of the panel loci on a microstellite analysis are unstable |
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