Biochem, genetics

sws42792's version from 2015-06-05 02:42

Genetics terms

Question Answer
Both alleles contribute to the phenotype of the heterozygoteCodominance
Phenotype varies among individuals with same genotypeVariable expressivity
Not all individuals with a mutant genotype show the mutant phenotypeIncomplete penetrance
One gene contributes to multiple phenotypic effectsPleitropy
Increased severity or earlier onset of disease in succeeding generationsAnticipation
If a pt inherits or develops a mutation in a tumor suppressor gene, the comlementary allele must be deleted/mutated before cancer develops, not true of oncogenesLoss of heterozygosity (Retinoblastoma)
Exerts a dominant effect, a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioningDominant negative mutation
Tendency for certain alleles at 2 linked loci to occur together more or less often than expected by chance, measured in a populationLinkage disepuilibrium
Presence of genetically distinct cell lines in the same individualMosaicism
Mutations at different loci can produce similar phenotypeLocus heterogeneity (Albinism)
Different mutations in the same locus produce the same phenotypeAllelic heterogeneity (B-Thalassemia)
Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited diseaseHeteroplasmy
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parentUniparental disomy

Chromosomal Disorders

Question Answer
3von Hippel-Lindau disease, renal cell CA
4ADPKD with PKD2 defect, Huntington disease
5Cri-du-chat syndrome, familial adenomatous polyposis
7Williams syndrome, cystic fibrosis
9Friedrich ataxia
11Wilms tumor
13Patau syndrome (trisomy), Wilson disease
15Prader-Willi syndrome (paternal gene deleted), AngelMan syndrome (maternal gene deleted) - both genetic imprinting diseases
16ADPKD with PKD1 defect
17Neurofibromatosis type I
18Edwards syndrome (trisomy)
21Down syndrome (trisomy)
22Neurofibromatosis type 2, DiGeorge syndrome (22q11)
XFragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY)

Amino Acid Derivatives

Question Answer
PhenylalanineTyrosine, thyroxine, dopa, melanin, dopamine, NE, epinephrine
TryptophanNiacin (and NAD+/NADP+), serotonin, melatonin
GlycinePorphyrin, heme
GlutamateGABA, glutathione
ArginineCreatinine, urea, nitric oxide