Aburatani H, Matsumoto A, Itoh H, Yamada N, Murase T, Takaku F, Itakura H
Third Department of Internal Medicine, University of Tokyo, Japan.
Atherosclerosis. 1988 Jul;72(1):71-6. doi: 10.1016/0021-9150(88)90064-0.
A Japanese group comprising 53 hyperlipidemic and 54 normolipidemic subjects was genotyped for DNA restriction fragment length polymorphisms (RFLPs) at the apo B gene locus. The polymorphisms with XbaI and PvuII were present at allelic frequencies of 0.04 (X1 allele) and 0.96 (X2 allele), 0.94 (P1 allele) and 0.06 (P2 allele), respectively. Unlike the previous reported association of the X1 allele with hypercholesterolemia found in Caucasians there was no difference in the frequency of the X1 allele between normolipidemic and hypercholesterolemic Japanese. Among the Japanese, two RFLPs appear to be in linkage equilibrium and can be used in conjunction as a haplotype. There is no strong population association in our patient group between any allele of the RFLPs studied and hyperlipidemia.
一个由53名高脂血症患者和54名血脂正常者组成的日本研究小组，对载脂蛋白B基因位点的DNA限制性片段长度多态性（RFLP）进行了基因分型。XbaI和PvuII多态性的等位基因频率分别为0.04（X1等位基因）和0.96（X2等位基因）、0.94（P1等位基因）和0.06（P2等位基因）。与之前报道的在高加索人中发现的X1等位基因与高胆固醇血症的关联不同，血脂正常的日本人和高胆固醇血症的日本人之间X1等位基因的频率没有差异。在日本人中，两种RFLP似乎处于连锁平衡状态，可以作为单倍型联合使用。在我们的患者组中，所研究的RFLP的任何等位基因与高脂血症之间没有很强的群体关联。
