Shared Flashcard Set

Details

Dr. Clark
genetic
19
Medical
Professional
12/07/2011

Additional Medical Flashcards

 


 

Cards

Term
Epigenitic Changes
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
Linkage analysis
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
Term
Exome sequencing
Definition
exons are sequenced, only the parts that are transcribed, represent 1% of human genome
Term
phenotypical variability
Definition
incomplete penetrance
complete penetrance
variable expression
Term
incomplete penetrance
Definition
trait that is not expressed in phenotype of gene carrier
Term
incomplete penetrance
examples
Definition
BRCA1 gene
other genes/environmental factors
Term
complete penetrance
Definition
genetic trait that is expressed in the phenotype
Term
complete penetrance examples
Definition
Achondroplasia
neurofibromatosis type 1
highly penetrant mutations
Term
Variable expression
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
Van der Woude syndrome
Term
interfamilial variation
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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