Dunedin-Genetics Flashcards
Can men pass on an x-linked condition to their sons?
NO. men give their sons the Y chromosome.
man can produce affected daughters
What is heteroplasmy?
A form of mitochondrial inheritance where only some DNA is mutated
What is an example of allelic heterogeneity?
many different types of mutations can result in the same disorder
exception: huntington
What is an example of locus heterogeneity?
long QT syndrome
What is an example of variable expressivity?
Marfan syndrome
What is an example of incomplete penetrance?
BRCA1/2 mutations
What is an example of imprinting?
Prader willi syndrome
What is the genetics behind prader willi syndrome?
Imprinting mutation due to altered DNA methylation
delation 15q11-q13
always paternal chromosome
What is the mode of inheritance of Huntington disease?
dominant inheritance
a triplet repeat disorder (allelic homogeneity)
What is the triplet repeat with fragile X syndrome?
CGG
What is the triplet repeat with spinobulbar muscular atrophy syndrome?
CAG
What is the triplet repeat in myotonic dystrophy?
CTG
How can mutations in introns affect phenotype?
if mutation in a splicing site.
