Concepedia

Segregation within a family of two mutant alleles for hexosaminidase A

Thaddeus E. Kelly, Linda Reynolds, John S. O’Brien

Clinical Genetics · 1976 · 37 citations · 5 references

DOI

Concepts

Abstract

A healthy adult female was found to have low levels of hexosaminidase A in serum, leukocytes and fibroblasts when these were assayed with artificial substrates. Fibroblast assay with GM2 ganglioside gave values consistent with a Tay-Sachs heterozygote. Studies of this non-Jewish family revealed evidence for segregation of two mutant alleles for hexosaminidase A.

References

5

Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

Ruth Navon, B Padeh, A. Adam · PubMed · 1973 · 98 citations

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Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast Cells

George H. Thomas, Harold A. Taylor, Linda Reynolds et al. · Pediatric Research · 1973 · 71 citations

, , +9

Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.

Jaclyn Vidgoff, Neil R.M. Buist, J S O′Brien · PubMed · 1973 · 65 citations

, , +1

Ganglioside G<sub>M2</sub> N‐acetyl‐ß‐D‐gafactosaminidase and asialo G<sub>M2</sub> (G<sub>A2</sub>) N‐acetyl‐ß‐D‐galactosaminidase; studies in human skin fibroblasts

John S. O’Brien, Anthony G.W. Norden, Arnold L. Miller et al. · Clinical Genetics · 1977 · 41 citations

, , +9

Tay-Sachs disease: high gene frequency in a non-Jewish population.

Thaddeus E. Kelly, G A Chase, Michael M. Kaback et al. · PubMed · 1975 · 21 citations

, , +9