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GM03575 LCL from B-Lymphocyte

Description:

TAY-SACHS DISEASE; TSD
HEXOSAMINIDASE A; HEXA

Affected:

Yes

Sex:

Female

Age:

31 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Lipid Metabolism
Alternate IDs GM17362 [TAY-SACHS DISEASE; TSD]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity ASHKENAZI
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Ashkenazi; ataxia, dementia, peripheral neuropathy; deficient HEX A; variant; guanosine to adenosine transition at the 3' end of exon 7 [Gly269Ser (G269S)] in 1 allele and a 4 base pair insertion in exon 11 in the other allele (1278insTATC)

Characterizations

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GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative 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 guanosine 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 (GM03575) also showed the loss of the ScrFI restriction site. The other allele was found to have the 4 base pair insertion in exon 11 observed in some cases of infantile Tay-Sachs Disease.
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
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 606869.0001; 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; ataxia, dementia, peripheral neuropathy; deficient HEX A; variant; guanosine to adenosine transition at the 3' end of exon 7 [Gly269Ser (G269S)] in 1 allele and a 4 base pair insertion in exon 11 in the other allele (1278insTATC)

Publications

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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: 10675
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

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
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$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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