title: Polymorphisms in the human glucocerebrosidase gene.
abstract: The two glucocerebrosidase genes from a patient with Gaucher disease were cloned and 8850 bp of each sequenced. Each clone had a single nucleotide change accounting for the clinical glucocerebrosidase deficiency, an A to G transition at cDNA nucleotide 1226 in one clone, and an insertion of a G at cDNA nucleotide 84 in the other clone. Sequence analysis revealed that there were 11 additional differences between the two clones. The clone with the nt 1226 mutation was, as is always the case, Pv1.1- (polymorphic PvuII site present). The 84GG clone was Pv1.1+. Examination of 35 normal subjects and 51 Gaucher disease patients was consistent with the existence of only two major haplotypes. Two additional minor haplotypes were found, one in Africans and one in the white population. These represented additional mutations superimposed on the basic two haplotypes. Two unrelated patients with Gaucher disease seemed to be exceptions in the 5' end of the gene was heterozygous for the + and - haplotypes but the most 3' marker was homozygous. These patients are believed to have a gene deletion on one allele. In addition to these studies, we correct 28 minor errors in the originally published sequence.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: C
authors.initials: C
authors.lastname: West
authors.forename: T
authors.initials: T
authors.lastname: Gelbart
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics*; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011544:Pseudogenes
chemical_list: D004247:DNA; D005962:Glucosylceramidase