Term
|
Definition
| what is the recurrence risk for typical mating for an autosomal dominant trait |
|
|
Term
|
Definition
Progressive
sensorineural deafness (DFNA1)is what type of inherited disease |
|
|
Term
|
Definition
| abnormality in the spectrin gene |
|
|
Term
| adult polycistic kidney disease |
|
Definition
| this disease is located on chromosome 16 |
|
|
Term
|
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
|
Definition
| when frequency of expression is less than 100% |
|
|
Term
|
Definition
multiple phenotypic effects of a single gene or gene pair
Term is particularly used when the effects are thought to be unrelated |
|
|
Term
|
Definition
| Mutation constitutively active receptor for luteinizing hormone is what type of disease? |
|
|
Term
|
Definition
| abnormality in the fibroblast growth factor receptor 3 gene |
|
|
Term
|
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
|
Definition
| deficiency in hexosaminidase A, jews have a 100X higher incidence |
|
|
Term
|
Definition
| abnormality linked to a deficiency in tyrosinase |
|
|
Term
|
Definition
| a mutation of homogentisic oxidase results in what disease |
|
|
Term
|
Definition
| glucocerebrosidase deficiency causes what type of disease |
|
|
Term
|
Definition
| Mucopolysacharide accumulation results in this disease |
|
|
Term
|
Definition
| sphingomyelinase deficiency results in this disease |
|
|
Term
|
Definition
| a deficiency in phenylalanine hydroxylase results in this disease located on chromosome 12 |
|
|
Term
|
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
|
Definition
| region of homology between X and Y chromosomes at terminal regions of p and q arms |
|
|
Term
|
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
|
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
|
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
|
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
|
Definition
| defective FMR-1 transcription results in? |
|
|
Term
|
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
|
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
|
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
|
Definition
Skeletal dysplasia with disproportionate short stature and deformity of the forearm.
Gene involved encodes for a transcription factor
Escapes X-inactivation |
|
|
Term
|
Definition
| mutated 15q11-q13 chromosome from father is what syndrome? mother? |
|
|
