【佳学基因检测】不孕症基因检测分子进展：多囊卵巢综合征

不孕症品牌基因检测688套餐解剖

与专家交流不孕不育症或者简称为不孕症基因检测全面性的标准与实施方案《不孕症突变基因检测与个性化治疗方案的制定》《Fertil Steril》在. 2002 Sep;78(3):569-76.发表了一篇题目为《不孕症的分子进展：多囊卵巢综合征》生育障碍基因检测临床研究文章。该研究由Richard S Legro, Jerome F Strauss等完成。促进了生殖科疾病的治疗与个性化用药的发展，进一步强调了生育健康基因检测的重要性。

不孕症解决方案临床研究内容关键词：

多囊卵巢综合征,PCOS,基因检测,基因列表,检测套餐

不孕症基因检测临床应用结果

基因解码基因检测的研究目的：回顾多囊卵巢综合征是一种遗传性疾病的证据。设计：回顾已发表的文献。基因解码基因检测的研究结果：现有文献为论证多囊卵巢综合征在家庭中聚集提供了强有力的依据。然而，该疾病的遗传方式仍然不确定，尽管大多数研究与常染色体显性遗传模式一致，可能受到环境因素的影响。此外，对培养中的多囊卵巢综合征细胞（膜、肌肉和脂肪细胞）的研究记录了将它们与正常细胞区分开来的持久生化和分子表型。尽管已提出几个位点作为多囊卵巢综合征基因，包括 CYP11A、胰岛素基因和胰岛素受体附近的区域，但支持联系的证据并不充分。最强的案例可以在胰岛素受体基因附近的区域进行，因为它已在两项独立的研究中确定。然而，染色体 19p13.3 上的负责基因仍有待确定。关联研究提供了许多具有可能产生或增加多囊卵巢综合征表型的遗传变异的潜在位点，包括 Calpain 10、IRS-1 和 -2 以及 SHBG。基因解码基因检测的研究结论：总的来说，这些发现与基因的概念是一致的。或几个基因与多囊卵巢综合征易感性有关。由于与多囊卵巢综合征相关的突变/基因型很少见，而且它们对表型的全面影响尚不完全清楚，因此目前不建议对患有多囊卵巢综合征或多囊卵巢综合征圣痕的女性进行这些遗传变异的常规筛查。目前，对单独鉴定的遗传变异的治疗影响尚不确定，必须逐案处理。

不孕症解决方案基因检测国际数据库描述：

Objective: To review the evidence that polycystic ovary syndrome is a genetic disease.Design: Review of published literature.Results: The existing literature provides a strong basis for arguing that PCOS clusters in families. However, the mode of inheritance of the disorder is still uncertain, although the majority of studies are consistent with an autosomal dominant pattern, modified perhaps by environmental factors. In addition, studies on PCOS cells (theca, muscle, and adipocytes) in culture have documented a persistent biochemical and molecular phenotype that distinguishes them from normal cells. Although several loci have been proposed as PCOS genes including CYP11A, the insulin gene, and a region near the insulin receptor, the evidence supporting linkage is not overwhelming. The strongest case can be made for the region near the insulin receptor gene, as it has been identified in two separate studies. However, the responsible gene at chromosome 19p13.3 remains to be identified. Association studies have provided a number of potential loci with genetic variants that may create or add to a PCOS phenotype, including Calpain 10, IRS-1 and -2, and SHBG.Conclusions: Collectively, these findings are consistent with the concept that a gene or several genes are linked to PCOS susceptibility. Because the mutations/genotypes associated with PCOS are rare, and their full impact on the phenotype incompletely understood, routine screening of women with PCOS or stigmata of PCOS for these genetic variants is not indicated at this time. Currently the treatment implications for individually identified genetic variants is uncertain and must be addressed on a case by case basis.