Genetics Flashcards
Myoglobin
Carries one oxygen intracellularly, has single alpha chain
Hemoglobin
Carries 4 oxygens in the bloodstream, two alpha and two beta chains
Start codon
AUG (methionine)
Stop codons
UAA, UAG, UGA
Phase 1 Initiation
tRNA binds to 5’ of mRNA until AUG (start) is encountered
Phase 2 Elongation
AA tRNA and peptidyltransferase bind at A and P sites
S Phase
Genome is replicated once (in both directions), nucleotides are added on 3’ end
M phase
Formation of mitochondrial apparatus, prophase, prometaphase, metaphase, anaphase, telophase
Fragile X Syndrome
FMR1 gene mutation leading to hypermethylation of genome, x-linked recessive, similar to ASD presentation
Klinefelter’s Syndrome
Sperm or egg gave extra X chromosome (47XXY), reduced testosterone, small testes, gynecomastia
Turner’s Syndrome
Absence or abnormality of one of the X chromosomes, short stature, webbed neck, underdeveloped sex organs, can lead to heart defects and HTN
Down Syndrome
Extra copy of 21 chromosome, risk for heart defects and respiratory issues,
Cystic Fibrosis
Mutations in CFTR gene, autosomal recessive, disruption in chloride and sodium ions across cell membrane, respiratory issues, digestive problems, male infertility,
Marfan Syndrome
AD, mutation affects CT (specifically FBN1 gene), aortic dilation, CT issues, tall and slender, ocular problems
EDS
COLA gene mutations,
PKU
Defect in PAH gene resulting in elevated phenylalanine in blood, Neuro issues, behavioral problems
Wilson’s Disease
AR, mutation in ATPB7 gene, accumulation in copper in liver, hepatic Sox’s, Kaiser fleischer rings
DiGeorge Syndrome
Small deletion of chromosome 22, increased risk for AI and heart issues, thymus and parathyroid dysfunction,
Alport Syndrome
Mutation in type IV collagen gene (COLA), affects kidneys/ eyes/ hearing, risk for end stage renal disease
