基因外因子IX基因限制性片段长度多态性对检测日本血友病B携带者很有用。

Extragenic factor IX gene RFLP is useful for detecting carriers of Japanese hemophilia B.

作者信息

Tanimoto M, Kojima T, Ogata K, Hamaguchi M, Takamatsu J, Kamiya T, Saito H

出版信息

Nihon Ketsueki Gakkai Zasshi. 1989 Jul;52(4):774-7.

Abstract

Seventy-eight X chromosomes from 25 normal Japanese subjects and 22 family members with hemophilia B (coagulation factor IX deficiency) were examined with an extragenic factor IX DNA probe, pX58dIIIc at DXS99 locus. In contrast to the previously described nonpolymorphic RFLPs in the factor IX gene, DXS99 locus RFLP produced by SacI digestion was detected among those Japanese subjects with allelic frequencies of 0.48 and 0.52. The estimated heterozygosity rate of this extragenic RFLP among Japanese females was about 50%. The study of hemophilia B family members showed that DXS99 locus RFLP was informative in 9 out of 13 families tested (69.2%). No recombination events between the factor IX gene locus (F9) and DXS99 locus have been noted among nine families analyzed. DXS99 SacI RFLP is a useful gene indicator of carrier-ship of hemophilia B.

摘要

使用位于DXS99位点的基因外因子IX DNA探针pX58dIIIc，对来自25名正常日本受试者和22名血友病B（凝血因子IX缺乏症）家庭成员的78条X染色体进行了检测。与先前描述的因子IX基因中的非多态性限制性片段长度多态性（RFLP）不同，在那些日本受试者中检测到了由SacI消化产生的DXS99位点RFLP，其等位基因频率分别为0.48和0.52。在日本女性中，这种基因外RFLP的估计杂合率约为50%。对血友病B家庭成员的研究表明，在13个检测家庭中的9个家庭（69.2%）中，DXS99位点RFLP具有信息价值。在分析的9个家庭中，未发现因子IX基因位点（F9）和DXS99位点之间发生重组事件。DXS99 SacI RFLP是血友病B携带者状态的一种有用的基因指标。