title: A common mutation site in the beta-galactosidase gene originates in Puerto Rico.
abstract: 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.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: N C
authors.initials: NC
authors.lastname: Chiu
authors.forename: W H
authors.initials: WH
authors.lastname: Qian
authors.forename: A L
authors.initials: AL
authors.lastname: Shanske
authors.forename: S S
authors.initials: SS
authors.lastname: Brooks
authors.forename: R M
authors.initials: RM
authors.lastname: Boustany
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D016537:Gangliosidosis, GM1 / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D011647:Puerto Rico; D001616:beta-Galactosidase / Q000235:genetics*
chemical_list: D001616:beta-Galactosidase