Chapter 13 Flashcards
AR, AD, sex-linked patterns are observed and single Gene disorders
transmission patterns
what mutations usually display a dominant phenotype
gain of function
what mutations usually display a recessive phenotype
loss of function
what patterns are observed with loss of function in multiMaric proteins
dominant negative
what is the most frequently observed transmission pattern
autosomal recessive AR
in what transmission does a mutant phenotype is not observed in the heterozygous state
AR
what results from somatic mutations or deletions of the normal allele
loh
over absorption of iron from food caused by mutations in the gene for a membrane iron transporter
hemachromatosis
thrombophilic State caused by the leiden mutation in the gene for Factor 5 and or specific mutations in the gene for Factor 2
Factor V Leiden
c282y , h63d, s65c are all mutations of
hemachromatosis type 1
r506q is a mutation of what
Factor V Leiden
what patterns are from single Gene disorders or disorders with multiple genetic components with non-classical patterns of transmission
non mendelian transmission patterns
somatic mutation in germ line cell. gonads
gonadal mosaicism
nucleotide or histone modifications that do not change the DNA sequence
genomic imprinting
increased allele sizes disrupt Gene function
nucleotide repeat expansion
