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Restriction fragment length polymorphisms among Japanese detected with a dihydropteridine reductase cDNA gene probe
Author(s) -
Hayasaka K.,
Narisawa K.,
Ohura T.,
Ogawa E.,
Dahl H. H. M.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800212
Subject(s) - restriction fragment length polymorphism , genetics , restriction enzyme , biology , allele frequency , genetic linkage , complementary dna , allele , microbiology and biotechnology , restriction fragment , gene , genotype
Summary Using a human dihydropteridine reductase (DHPR) cDNA, the frequency of restriction fragment length polymorphisms (RFLPs) with restriction endonucleases AvaII, MspI, NcoI and HinfI was estimated in unrelated, unaffected Japanese. The allele frequencies are different from those found in Caucasians, especially with MspI and HinfI. However, approximately 60% of Japanese are heterozygous for at least one of the RFLPs and analysis of one family with DHPR deficiency was shown to be informative. RFLP linkage analysis will be useful in the Japanese population as previously reported for Caucasians.