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首页> 外文期刊>Endocrine journal >Association of Common LH Variant with Hyperfunctional Promoter in a Japanese Infertile Woman
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Association of Common LH Variant with Hyperfunctional Promoter in a Japanese Infertile Woman

机译：日本不育妇女常见LH变异与功能亢进症的关联

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References(9) Cited-By(2) A common LH variant (V-LH) with Trp8Arg and Ile15Thr is often associated with ovarian dysfunction primarily in the Japanese population, and the LHB gene encoding V-LH is linked with a hyperfunctional promoter that could partly compensate for the somewhat weak biological effect of the V-LH in the Finnish and other several populations. We analyzed the promoter region in a Japanese infertile woman homozygous for the V-LH, to examine whether the hyperfunctional promoter is present or absent in the Japanese V-LH carriers with ovarian dysfunction. Direct sequencing was performed for a 661 bp promoter region from –8 to –668 bp of LHB, revealing homozygosity for eight nucleotide substitutions (–238A>G, –276G>A, –489C>A, –490T>A, –504T>A, –506T>C, –525T>G, and –552C>T) that are identical to those found in the hyperfunctional promoter. The results suggest that ovarian dysfunction frequently observed in the Japanese V-LH carriers would be due to some population-specific genetic and/or environmental factor(s) rather than to the lack of the hyperfunctional promoter and the resultant low biological effect of the V-LH. In addition, the tight linkage between the two missense substitutions in the coding region and the eight nucleotide substitutions in the promoter region of LHB appears to be common to various ethnic groups.
机译：参考文献（9）被引用的By（2）具有Trp8Arg和Ile15Thr的常见LH变体（V-LH）通常主要在日本人群中与卵巢功能障碍有关，并且编码V-LH的LHB基因与超功能启动子相连。可以部分弥补V-LH在芬兰和其他一些人群中的生物学作用较弱。我们分析了纯合子的日本不育妇女的V-LH的启动子区域，以检查在患有卵巢功能障碍的日本V-LH携带者中是否存在超功能启动子。对LHB的–8至–668 bp的661 bp启动子区域进行了直接测序，揭示了八个核苷酸取代的纯合性（–238A> G，–276G> A，–489C> A，–490T> A，–504T> A，–506T> C，–525T> G和–552C> T）与超功能启动子中的相同。结果表明，在日本V-LH携带者中经常观察到的卵巢功能障碍是由于某些特定于人群的遗传和/或环境因素，而不是由于缺乏超功能启动子以及由此产生的V的低生物学效应-LH。另外，LHB的编码区中的两个错义取代与启动子区中的八个核苷酸取代之间的紧密连接似乎是各个种族共有的。

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