W7 Genetic Tools Flashcards
Polymorphic chromosomal markers
any mark (usually sequence) that helps us determine whether or not an individual carries a disease gene
Most genetic polymorphisms are pathological/benign
benign
Biomarkers
DNA sequences usually found with diseased gene
are not genetic mutation themselves
Restriction fragment length polymorphism
biomarker acts as restriction endonuclease recognition site
This type of modifiction may both endonuclease binding
methylation
Variable number of tandem repeats (VNTR)
PCR analysis
size of fragments can tell where chromosome came from/act as biomarker
Haplotypes
Haploid genotypes
haplotype blocks are a large set of SNPs that are found in certain populations
haplotype maps are constructed from populations
haplogroups are used to trace ancestry
Prader-Willi syndrome
Maternally imprinted gene on chromosome 17
Found next to Angelman syndrome gene
Angelman syndrome
paternally imprinted gene on chromosome 17
next to Prader-Willi syndrome gene
Clinical cytogenetics
study of chromosome structure
Karyotyping
looking at number and mophological features of set of chromosomes
Angelman Syndrome
Paternally imprinted
Maternal deletion–>Angelman
Prader-Willi Syndrome
Maternally imprinted
Paternal deletion–>Prader-Willi
How can the Prader-Willi gene be deleted without producing the PW phenotype?
PW is maternally imprinted, so if the maternal gene (imprinted) is deleted, it will not make a phenotypic difference
What does the Prader-Willi gene encode?
long noncoding RNA
