Restriction fragment length polymorphism analysis in healthy Japanese individuals and Japanese families with Gaucher disease.

We analysed the restriction fragment length polymorphism (RFLP) of 30 unrelated, healthy Japanese individuals and the members of seven Japanese families with Gaucher disease (5 Type I, 2 Type III) with the cDNA for human glucocerebrosidase, to investigate the frequency of the RFLP among healthy Japanese individuals and to determine the feasibility of the use of this probe DNA for carrier detection and prenatal diagnosis in Japanese families with Gaucher disease. In the Pvu II polymorphism, the common allele reported by Sorge et al was the rare allele for healthy Japanese individuals. The frequency of the common allele (+) in Japanese was 0.75 and the rare allele (-) was 0.25. The RFLP study was informative for carrier detection in the family in which both parents were heterozygous for the Pvu II polymorphism. Even in the family in which only one parent was heterozygous, carrier detection was feasible by combining the clinical history and the RFLP, although prenatal diagnosis was not feasible. The Kpn I polymorphism was not detected. It is necessary for precise carrier detection and prenatal diagnosis to investigate other restriction endonucleases which reveal the RFLP.