Genics Flashcards
What is autosomal dominant inheritance?
at least one parent carries the gene that is expressed.
What is autosomal recessive inheritance?
both parents carry gene that is being expressed.
X-link recessive inheritance affects who more?
-affects males mostly
X-link dominant affects who more?
females
Y-linked inheritance only affects?
males
Mitochondrial inheritance results from?
the maternal egg
What are SNPs?
single nucleotide polymorphisms
MTHFR is related to what nutrient?
folate
What happens with MTHFR?
affects methylation
What is methylation?
a chemical reaction where a methyl group gets added to DNA, proteins or other modules.
What is pharmacogenomics?
used to predict how a patient might respond to drug
What is epigenetic?
gene expression is controlled by epigenetic marks, which determines function or expression of the gene
What is mendelian inheritance?
track a mutation through family history
What is trisomy or down syndrome?
-chromosomal disorder
-determined karyotype
-addition of chromosome material to chromosomes 21
PKU results from?
-mutation in the gene coding for the enzymes phenylalanine hydroxylase
-can’t convert phenylalanine to tyrosine