Toyozumi H, Kojima T, Matsushita T, Hamaguchi M, Tanimoto M, Saito H
First Department of Internal Medicine, Nagoya University School of Medicine, Japan.
Thromb Haemost. 1995 Oct;74(4):1009-14.
We identified two novel dinucleotide polymorphisms in intron A at nucleotide 192 (FIX192) and in the 5' flanking region at nucleotide -793 (FIX-793) of the factor IX gene, which are present in normal Japanese. The Hha I restriction fragment length polymorphism (FIX-HhaI) located 8 kb 3' to the factor IX gene was also found to be an efficient marker for detecting carriers in a Japanese family with hemophilia B. Each of these polymorphisms was able to be rapidly ascertained by the polymerase chain reaction (PCR) technique. In 22 Japanese families with hemophilia B, 18 families (81.8%) were heterozygous for at least one of these polymorphisms, whereas 11 (50%) were informative for the extragenic DXS99/Sac I RFLP which was previously reported as a useful gene marker for Japanese hemophilia B. Using all 4 polymorphisms together, the informative rate improved to 86.4%. Carrier detection and, possibly, the prenatal diagnosis of hemophilia B can be achieved effectively and rapidly in Japanese with these polymorphisms.
我们在日本正常人中发现了因子IX基因内含子A中第192位核苷酸（FIX192）和5'侧翼区第 -793位核苷酸（FIX -793）处的两个新的二核苷酸多态性。位于因子IX基因3'端8 kb处的Hha I限制性片段长度多态性（FIX - HhaI）也被发现是检测一个日本B型血友病家族携带者的有效标记。这些多态性中的每一种都能够通过聚合酶链反应（PCR）技术快速确定。在22个日本B型血友病家族中，18个家族（81.8%）至少对其中一种多态性呈杂合状态，而11个家族（50%）对于基因外的DXS99/Sac I RFLP信息丰富，该RFLP先前被报道为日本B型血友病的有用基因标记。同时使用所有4种多态性，信息丰富率提高到了86.4%。利用这些多态性，可以在日本人中有效且快速地实现B型血友病携带者的检测以及可能的产前诊断。
