Term
|
Definition
| Modifications of gene expression due to changes affecting chromatin, histones and other DNA associated proteins and structures |
|
|
Term
| Methylation of the promoter of the RB1 gene |
|
Definition
| silences the gene expression and causes retinoblastoma in 11% |
|
|
Term
| Comparative Genomic Hybridization (CGH) |
|
Definition
genomic scanning to search for chromosome aberrations
examine chromosome structure in cancer |
|
|
Term
Comparative Genomic Hybridization (CGH)
Too much green |
|
Definition
patient had a duplication of that site or target area on the array
advantage |
|
|
Term
|
Definition
| pattern of DNA markers near gene of interest, segregate with disease |
|
|
Term
Linkage analysis
requirement |
|
Definition
| DNA analysis of multiple family members |
|
|
Term
Heteroduplex analysis
CSGE |
|
Definition
| shows that there is a mutation but not where it is |
|
|
Term
Allele Specific Oligonucleotide
ASO hybridization |
|
Definition
| radio labeled specific DNA probes for normal and known mutant DNA |
|
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Term
|
Definition
| exons are sequenced, only the parts that are transcribed, represent 1% of human genome |
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|
Term
|
Definition
incomplete penetrance
complete penetrance
variable expression |
|
|
Term
|
Definition
| trait that is not expressed in phenotype of gene carrier |
|
|
Term
incomplete penetrance
examples |
|
Definition
BRCA1 gene
other genes/environmental factors |
|
|
Term
|
Definition
| genetic trait that is expressed in the phenotype |
|
|
Term
| complete penetrance examples |
|
Definition
Achondroplasia
neurofibromatosis type 1
highly penetrant mutations |
|
|
Term
|
Definition
genetic mutation associated with more than one phenotype
intrafamilial variability
interfamilial variation |
|
|
Term
| intrafamilial variability |
|
Definition
| due to interaction with other genes (GxG) or environmental factors |
|
|
Term
Intrafamilial variability
example |
|
Definition
|
|
Term
|
Definition
| due to the effect of different mutations within the same gene |
|
|
Term
| Autosomal dominant inheritance |
|
Definition
phenotypical variability
penetrance
expression |
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|
