title: Gaucher disease mutations in non-Jewish patients.
abstract: The DNA from 64 non-Jewish patients with Gaucher disease was examined for 29 different glucocerebrosidase mutations that are known to cause the disease. The most common was mutation 1448C and the second most common 1226G. Twenty of the mutations remained unidentified. These results were compared to those obtained from 122 Jewish patients, in whom the most common mutations were 1226G and 84GG. Among the non-Jewish patients 15.6% of the mutations remained unidentified, while among the Jewish patients only 1.2% remained unidentified, and even screening for the five most common mutations identified all but 2.9% of the Jewish mutations. The greater diversity of mutations among the non-Jewish patients has important implications with respect to DNA-based screening, diagnosis and counselling.
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: T
authors.initials: T
authors.lastname: Gelbart
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001483:Base Sequence; D002140:California / Q000453:epidemiology; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry; D005776:Gaucher Disease / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D007585:Jews; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*
chemical_list: D004247:DNA; D005962:Glucosylceramidase