Chapter 3: Genetic Basis of Disease Flashcards
Nitrogen base pairing DNA
A-T; G-C
Nitrogen base pairing RNA
G-C; A-U
exons
protein coding sequences(10% of genome)
introns
dont provide coding info
codons
arrangement of 3 specific DNA bases
shorter segment of chromosome vs longer segment
p arm; q arm
slow acetylators vs fast aceytlators
process drugs more slowly=higher blood levels, longer activity; lower blood levels
oncogene
genetic mutation, which increases risk for cancer
oncoproteins
defective proteins that direct radical growth
tumor supressor genes
genes that inhibit uncontrolled cellular mitosis
aneuploidy
alteration in chromosome division during meiosis; diff # of chromosomes
translocation
piece of 1 chromosome breaks off and joins another
Familial Hypercholesterolemia (FH)
autosomal dominant, causes severe elevations in total cholesterol and LDL
Familial Adenhomatous Polyposis(FAP)
autosomal-dominant, early onset of 100-1000s polyps throughout colon
Marfans Syndrome
CT disorder, mutations in fibrillin gene which causes lethal structural issues of major organs/ airway
Neurofibromatosis(NF)
Type 1-more common, type 2- less cutaneous involvement; manifestions: cafe-au-lait spots, freckles, optic nerve tumor, long bone abnormalities
Ehlers-Danlos Syndrome(ED)
Diminished strength and integrity of skin, joints and other CT
Cystic Fibrosis(CF)
respiratory and pancreas, thick mucus plugging pancreas ductules
Tay Sachs
deficient breakdown of ganglioside= destruction of neurons and brain cells; death by 3 years
wilsons disease
excessive deposition of copper in liver, brain
Klinefelters Syndrome
men XXY, lack of development of male parts
Turner Syndrome
missing an X chromosome in females, lymphedema, short stature and infertility
