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Genetics
Test 1 Set 3
39
Other
Graduate
01/18/2009

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Term
50%
Definition
what is the recurrence risk for typical mating for an autosomal dominant trait
Term
AD
Definition
Progressive
sensorineural deafness (DFNA1)is what type of inherited disease
Term
hereditary spherocytosis
Definition
abnormality in the spectrin gene
Term
adult polycistic kidney disease
Definition
this disease is located on chromosome 16
Term
Huntington's disease
Definition
CAG trinucleotide expansion on chromosome 4
Term
neurofibromas; chromosome 17q
Definition
affects NF-1 and NF2 genes. what chromosome is this disease located on?
Term
Von Hippel-Lindau disease
Definition
disorder with the VHL gene
Term
reduced penetrance
Definition
when frequency of expression is less than 100%
Term
pleiotropy
Definition
multiple phenotypic effects of a single gene or gene pair
Term is particularly used when the effects are thought to be unrelated
Term
familial testotoxicosis
Definition
Mutation  constitutively active receptor for luteinizing hormone is what type of disease?
Term
achondroplasia
Definition
abnormality in the fibroblast growth factor receptor 3 gene
Term
cystic fibrosis
Definition
abnormality on chromosome 7 (Cl-) (CFTR gene); 1/2000 live births and 1/22 are carriers; abnormally elevated sweat CO levels, 85% pancreatic insufficiency, 50% die by age 30
Term
coefficient of inbreeding (F)
Definition
probability that a homozygote has received both alleles at a locus from the same ancestral source
Proportion of loci at which a person is homozygous or identical by descent
Term
Tays Sachs
Definition
deficiency in hexosaminidase A, jews have a 100X higher incidence
Term
albinism
Definition
abnormality linked to a deficiency in tyrosinase
Term
alkaptonuria
Definition
a mutation of homogentisic oxidase results in what disease
Term
gaucher's disease
Definition
glucocerebrosidase deficiency causes what type of disease
Term
Mucopolysacharidoses
Definition
Mucopolysacharide accumulation results in this disease
Term
Niemann-Pick
Definition
sphingomyelinase deficiency results in this disease
Term
phenylketonuria
Definition
a deficiency in phenylalanine hydroxylase results in this disease located on chromosome 12
Term
hemochromatosis
Definition
the Main mutation of this disease Cys282Tyr; Enhanced absorption of dietary iron
Excessive iron storage
Iron overload rare but when seen  affects heart, liver, pancreas; more common in males than females
Term
pseudoautosomal region
Definition
region of homology between X and Y chromosomes at terminal regions of p and q arms
Term
holandric inheritance
Definition
Y-linked genes are transmitted from father to son
Term
H-Y histocompatibility antigen
Definition
Gene for hairy ear
and involved in spermatogenesis
Term
lyon hypothesis
Definition
Females have only one transcriptionally active X chromosome in somatic cells of females
Inactive X chromosome  ‘Barr body’ (condensed form during interphase, appears as darkly staining mass )
Inactivation occurs early in embryonic life and is complete by end of first week of gestation
Inactivation is random and permanent
Term
x chromosome inactivation center
Definition
Located at Xq13
Expressed only from the allele on inactive X
Product is a noncoding RNA (XIST)  part of the Barr body complex
Term
x inactivation
Definition
by hypermethylation of CpG dinucleotides in promoter regions of genes achieves what
Term
genes in the pseudoautosomal region, Genes outside pseudoautosomal region with homologous genes on Y chromosome, and Genes outside pseudoautosomal region that do not have homologous genes on Y chromosome
Definition
what are the three classes of gene escape inactivation?
Term
non random inactivation
Definition
When Karyotype involves a structurally abnormal X chromosome
Term
manifesting heterozygotes
Definition
mutated allele is present on active X chromosome in all or most cells
Term
asymptomatic heterozygotes
Definition
mutant allele preferentially on inactive X chromosome in most or all cells
Term
Fragile X sydrome
Definition
defective FMR-1 transcription results in?
Term
x linked dominant
Definition
Regularly expressed in heterozygotes
Affected males (with normal mates) have
All daughters affected
None of the sons affected is what type of inheritance
Term
rickets
Definition
Develops even in presence of adequate dietary intake of vitamin D.
Characterized by low plasma and high urinary phosphate levels
impaired ability of kidney tubules to reabsorb filtered phosphate
Term
Ornithine transcarbamylase (OTC) Deficiency
Definition
considered incompletely dominant X-linked disorder;Urea cycle enzyme – complete deficiency  lethal neonatal hyperammonemia in affected males
Term
Rett syndrome
Definition
Spontaneous mutation in the MECP2 gene
Codes for methyl CpG-binding protein 2
causes what disease (men who survive will either have klinefelters or sex reversal
Term
Incontinentia pigmenti type 2
Definition
Lethal in males
Features:
Microcephaly
Mental retardation
Small or absent teeth
Loss of hair
Skin rash that begins in infancy as a swirling pattern of skin erythema, vesicles. Female heterozygotes
Totally nonrandom pattern of X-inactivation
X chromosomes carrying the mutant for this disease are inactive!
Term
Dyschondrosteosis
Definition
Skeletal dysplasia with disproportionate short stature and deformity of the forearm.
Gene involved encodes for a transcription factor
Escapes X-inactivation
Term
Prader willi, Angelmann
Definition
mutated 15q11-q13 chromosome from father is what syndrome? mother?
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