Hayasaka K, Narisawa K, Ohura T, Ogawa E, Dahl H H
Department of Biochemical Genetics and Paediatrics, Tohoku University School of Medicine, Sendai, Japan.
J Inherit Metab Dis. 1990;13(6):873-8. doi: 10.1007/BF01800212.
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.
利用人二氢蝶啶还原酶（DHPR）cDNA，在无亲缘关系、未受影响的日本人中估计了限制性内切酶AvaII、MspI、NcoI和HinfI产生的限制性片段长度多态性（RFLP）的频率。等位基因频率与高加索人不同，尤其是MspI和HinfI。然而，约60%的日本人至少对一种RFLP是杂合的，并且对一个患有DHPR缺乏症的家系的分析显示是有信息量的。正如之前对高加索人所报道的那样，RFLP连锁分析在日本人群中将是有用的。
