Literature DB >> 7446530

Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.

A B Lane, E Young, T Jenkins.   

Abstract

A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The individuals would not be detected as carriers of Tay-Sachs disease or Sandhoff disease in a population screening program.

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Year:  1980        PMID： 7446530      PMCID： PMC1686159     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  12 in total

1.  Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease.

Authors:  K Sandhoff
Journal:  FEBS Lett       Date:  1969-08       Impact factor: 4.124

2.  Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes.

Authors:  E Beutler; W Kuhl
Journal:  Nature       Date:  1975-11-20       Impact factor: 49.962

3.  Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.

Authors:  J A Lowden
Journal:  Am J Hum Genet       Date:  1979-05       Impact factor: 11.025

4.  Tay-Sachs disease--the use of tears for the detection of heterozygotes.

Authors:  P J Carmody; M C Rattazzi; R G Davidson
Journal:  N Engl J Med       Date:  1973-11-15       Impact factor: 91.245

5.  Sandhoff disease: diagnosis of heterozygous carriers by serum hexosaminidase assay.

Authors:  Y Suzuki; Y Koizumi; H Togari; Y Ogawa
Journal:  Clin Chim Acta       Date:  1973-10-12       Impact factor: 3.786

6.  Enzyme alterations and lipid storage in three variants of Tay-Sachs disease.

Authors:  K Sandhoff; K Harzer; W Wässle; H Jatzkewitz
Journal:  J Neurochem       Date:  1971-12       Impact factor: 5.372

7.  Suggestions for a nomenclature for the GM2 gangliosidoses making certain (possibly unwarrantable) assumptions.

Authors:  J S O'Brien
Journal:  Am J Hum Genet       Date:  1978-11       Impact factor: 11.025

8.  Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B.

Authors:  B Geiger; R Arnon
Journal:  Biochemistry       Date:  1976-08-10       Impact factor: 3.162

9.  Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.

Authors:  M C Rattazzi; J A Brown; R G Davidson; T B Shows
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

10.  Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1969-08-15       Impact factor: 47.728
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  1 in total

1.  Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

Authors:  R M Cantor; J S Lim; C Roy; M M Kaback
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025
  1 in total

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