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NA03461 DNA from LCL

Description:

TAY-SACHS DISEASE; TSD
HEXOSAMINIDASE A; HEXA

Affected:

Yes

Sex:

Male

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
GeT-RM Samples
Class Disorders of Lipid Metabolism
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity JEWISH
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Ashkenazi; variant; deficient hexosaminidase A; weakness and ataxia; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 805 in exon 7 of the HEXA gene [805G>A] resulting in a substitution of serine for glycine at codon 269 [Gly269Ser (G269S)] and a second allele has a splice site mutation with a G>C transversion in the first nucleotide of intron 12 [IVS12+1G>C].

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
MUTATION VERIFICATION Paw et al (Proc Natl Acad Sci USA 86:2413-2417 1989) reported that a patient with adult-onset GM2 gangliosidosis had a substitution of a serine for glycine at position 269 of the alpha-subunit of B-hexosaminidase. This quanosine to adenosine transition at the 3 prime end of exon 7 causes a loss of a ScrFI restriction site. DNA from the lymphoblasts of this patient (GM03461) also showed the loss of the ScrFI restriction site. The other allele was found to have the intron 12 guanosine to cytidine splice-site mutation observed in some cases of infantile Tay-Sachs Disease.
 
MUTATION VERIFICATION The gene mutation(s) in this sample have been verified by 6 laboratories.
 
beta-N-acetylhexosaminidase (hexosaminidase A) According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.52
 
Gene HEXA
Chromosomal Location 15q23-q24
Allelic Variant 1 606869.0008; GM2-GANGLIOSIDOSIS, ADULT ONSET
Identified Mutation GLY269SER; In 8 Ashkenazi adult GM2 gangliosidosis patients from 5 different families, Navon and Proia [Science 243: 1471 (1989)] identified a G-to-A substitution at the 3-prime end of exon 7, resulting in the substitution of serine for glycine at position 269.
 
Gene HEXA
Chromosomal Location 15q23-q24
Allelic Variant 2 606869.0002; TAY-SACHS DISEASE
Identified Mutation IVS12DS, G>C, +1; Arpaia et al. [Nature 333: 85 (1988)] identified a single-base mutation in a cloned fragment of the HEXA gene from an Ashkenazi Jewish patient with Tay-Sachs disease. The change, a G-to-C substitution in the first nucleotide of intron 12, was expected to result in defective splicing of the mRNA. A test for the mutant allele based on amplification of DNA by the PCR and cleavage of a DdeI restriction site generated by the mutation showed that this case. This mutation, the second most frequent among Ashkenazi Jews, accounts for approximately 13% of cases in this ethnic group.

Phenotypic Data

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Remarks Ashkenazi; variant; deficient hexosaminidase A; weakness and ataxia; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 805 in exon 7 of the HEXA gene [805G>A] resulting in a substitution of serine for glycine at codon 269 [Gly269Ser (G269S)] and a second allele has a splice site mutation with a G>C transversion in the first nucleotide of intron 12 [IVS12+1G>C].

Publications

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Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009
PubMed ID: 19815695
 
Paw BH, Wood LC, Neufeld EF, A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene. Am J Hum Genet48:1139-46 1991
PubMed ID: 1827944
 
Paw BH, Kaback MM, Neufeld EF, Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase [published erratum appears in Proc Natl Acad Sci U S A 1989 Jul;86(14):5625] Proc Natl Acad Sci U S A86:2413-7 1989
PubMed ID: 2522660

External Links

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dbSNP dbSNP ID: 10665
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
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$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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