A common mutation site in the beta-galactosidase gene originates in Puerto Rico.


Journal Article

Several mutation sites have been found in the beta-galactosidase gene of patients with GM1 gangliosidosis. In a previous report we found a common point mutation site in American patients with GM1 gangliosidosis resulting in a 208Arg --> Cys amino acid substitution. From the patients' family history, we suggested that this mutation may have come to South and North America via Puerto Rico. Four new patients with infantile GM1 gangliosidosis have been analyzed with allele-specific hybridization. Two siblings from Puerto Rico of Spanish ancestry are homozygous for this mutation. Another patient also from Puerto Rico is heterozygous for this allele, and another black patient does not have this mutation. These results support our initial hypothesis that this mutation has probably arisen in Puerto Rico.

Full Text

Cited Authors

  • Chiu, NC; Qian, WH; Shanske, AL; Brooks, SS; Boustany, RM

Published Date

  • January 1, 1996

Published In

Volume / Issue

  • 14 / 1

Start / End Page

  • 53 - 56

PubMed ID

  • 8652017

Pubmed Central ID

  • 8652017

International Standard Serial Number (ISSN)

  • 0887-8994

Digital Object Identifier (DOI)

  • 10.1016/0887-8994(95)00255-3


  • eng

Conference Location

  • United States