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NA03052 DNA from Fibroblast

Description:

TAY-SACHS DISEASE; TSD
HEXOSAMINIDASE A; HEXA

Affected:

No Data

Sex:

Female

Age:

24 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Lipid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity ASHKENAZI
Family Member 3
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Ashkenazi; clinically unaffected; neither alpha chain allele has a splice junction mutation; 1 alpha chain allele has a 4 bp insertion in exon 11; mother of GM02968A

Characterizations

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PDL at Freeze 4.38
Passage Frozen 9
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
MUTATION VERIFICATION Myerowitz (Proc Natl Acad Sci USA 85:3955 1988) observed 2 normal alpha chain alleles with respect to the splice junction mutation observed in the spouse and affected child of this woman. Arpaia et al (NATURE 333:86-86 1988) reported that this Tay-Sachs disease heterozygote lacked the splice junction mutation a DdeI restriction site which was found in her husband and affected daughter (GM02968). Myerowitz and Costigan (J Biol Chem 263:18587-18589 1988) found that one alpha chain allele had a 4 base pair insertion in exon 11 which was the same as that found for one allele in her affected daughter. This lesion was found in approximately 70% of Tay-Sachs carriers in the Ashkenazi Jewish population.
 
Gene HEXA
Chromosomal Location 15q23-q24
Allelic Variant 1 606869.0001; TAY-SACHS DISEASE
Identified Mutation c.1274_1277dupTATC; Myerowitz and Costigan [J Biol Chem 263: 18587 (1988)] demonstrated that the most frequent DNA lesion in Tay-Sachs disease of Ashkenazi Jews is a 4-bp insertion in exon 11. This mutation introduces a premature termination signal in exon 11, resulting in a deficiency of mRNA. This is the most frequent defect underlying Tay-Sachs disease in the Ashkenazi Jewish population. This mutation is alternatively designated 1277TATC; see 272800.0054.

Phenotypic Data

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Remarks Ashkenazi; clinically unaffected; neither alpha chain allele has a splice junction mutation; 1 alpha chain allele has a 4 bp insertion in exon 11; mother of GM02968A

Publications

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Boles DJ, Proia RL, The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation. Am J Hum Genet56:716-24 1995
PubMed ID: 7887427
 
Arpaia E, Dumbrille-Ross A, Maler T, Neote K, Tropak M, Troxel C, Stirling JL, Pitts JS, Bapat B, Lamhonwah AM, et al, Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Nature333:85-6 1988
PubMed ID: 3362213
 
Myerowitz R, Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group. Proc Natl Acad Sci U S A85:3955-9 1988
PubMed ID: 3375249
 
Myerowitz R, Costigan FC, The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem263:18587-9 1988
PubMed ID: 2848800

External Links

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dbSNP dbSNP ID: 10596
Gene Cards HEXA
Gene Ontology GO:0004563 beta-N-acetylhexosaminidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006687 glycosphingolipid metabolism
GO:0016798 hydrolase activity, acting on glycosyl bonds
NCBI Gene Gene ID:3073
NCBI GTR 272800 TAY-SACHS DISEASE; TSD
606869 HEXOSAMINIDASE A; HEXA
OMIM 272800 TAY-SACHS DISEASE; TSD
606869 HEXOSAMINIDASE A; HEXA
Omim Description B VARIANT GM2 GANGLIOSIDOSIS
  GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED
  GM2-GANGLIOSIDOSIS, TYPE I
  HEXA DEFICIENCYHEXOSAMINIDASE A, INCLUDED; HEXA, INCLUDED
  HEXOSAMINIDASE A DEFICIENCY
  HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED
  TAY-SACHS DISEASE, JUVENILE, INCLUDED
  TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED
  TAY-SACHS DISEASE, VARIANT B1, INCLUDED
  TAY-SACHS DISEASE; TSD
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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