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首页> 外文会议>International Conference on Science, Engineering the Technology >Inactivating Mutation screening of Exon 6 and Exon 10E of FSHR gene in women with Polycystic Ovarian Syndrome in Vellore population
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Inactivating Mutation screening of Exon 6 and Exon 10E of FSHR gene in women with Polycystic Ovarian Syndrome in Vellore population

机译：在瓦雷群中具有多囊卵巢综合征的妇女的外显子6和FSON 10E的突变筛选突变筛选

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Polycystic Ovarian syndrome (PGOS) is a major cause of infertility in females of reproducing age and is typified by oligo-anovulation, hyperandrogenism, hirsutism and polycystic ovaries. FSHR gene located on chromosome 2 p21 is responsible for the normal follicular development and any deletion or mutation in the gene affects the interaction of FSH with its receptor. Thus, it becomes the candidate gene for PCOS study. Inactivating mutation in FSHR gene limits the receptor's function by creating a complete block, changing the receptor-ligand complex or the basic hormone signal transduction.To screen the inactivating mutations in Exon 6 and Exon 10E of FSHR gene in women diagnosed with PCOS.PCR-RFLP analysis indicated that there were no inactivating mutations found in Exon 6 and Exon 10E. Variations in hormone levels were seen amongst the PCOS patients. There were no inactivating mutations found in FSHR gene of the women diagnosed with PCOS according to the Rotterdam criteria in Vellore population.
机译：多囊卵巢综合征（PGOS）是繁殖年龄的女性中不孕症的主要原因，是通过寡核糖栓，高衰变，流氓和多囊卵巢的类型。位于染色体2 P21上的FSHR基因负责正常的滤色发育，并且基因中的任何缺失或突变会影响FSH与其受体的相互作用。因此，它成为PCOS研究的候选基因。 FSHR基因中的失活突变通过产生完整的嵌段来限制受体的功能，改变受体 - 配体复合物或基本激素信号转导。筛选患有PCOS.PCR的女性外显子6和外显子10e的灭活突变 - RFLP分析表明，外显子6和外显子10E中没有发现突变。在PCOS患者中可以看到激素水平的变化。根据鹿特丹标准诊断有PCOS的妇女的FSHR基因没有灭活突变。

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