Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.
Twenty-six patients with Gaucher's disease diagnosed in the United Kingdom and two obligate carriers, all of non-Jewish origin, were screened for the two common disease causing mutations and two rarer mutations in the glucocerebrosidase gene. These mutations are referred to as N370S, L444P, Ins84G, and 1066 + 1G-->A, respectively. The results showed that out of 54 alleles screened, 26% were N370S, 35% were L444P, and the remaining 39% were rare or undefined. The results also showed a clear correlation between the presence of at least one N370S allele and mild disease.
Walley
A J
AJ
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford.
Barth
M L
ML
Ellis
I
I
Fensom
A H
AH
Harris
A
A
D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics*; D005787:Gene Frequency; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D006113:United Kingdom
D004247:DNA; D005962:Glucosylceramidase