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首页> 外文期刊>Drugs of today: Medicamentos de actualidad >Endometriosis: a genetic disease.
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Endometriosis: a genetic disease.

机译：子宫内膜异位症：遗传疾病。

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摘要

Endometriosis is a multifactorial disease affecting up to 15% of women of reproductive age. This condition is characterized by the presence and growth of endometrial cells outside the uterus. Susceptibility to endometriosis depends on complex interactions of immunologic, hormonal, environmental and genetic factors. Although familial inheritance plays a role, multiple candidate genes appear to be involved. New studies investigating the influence of genetic variants on endometriosis are published with increasing frequency. A number of technologies have emerged to facilitate progress in this field, including subtractive cDNA hybridization to identify secretory endometrial genes, DNA chip technology, differential display polymerase chain reaction, cytogenetics evaluation of endometriotic cells and tissues, and complementary methods in proteomics and informatics. One general approach to uncovering genes pivotal to endometriosis is to search systematically for perturbations in selective candidate genes or chromosomal regions using polymerase chain reaction. We describe here novel association studies on obvious candidates, including genes governing cancer susceptibility, hormone sensitivity or immunology. The assessment of mutations and polymorphisms may allow individualization of therapies as well as primary and secondary prevention strategies for endometriosis, aimed at high-risk populations.
机译：子宫内膜异位病是一种影响高达15％的生殖年龄的疾病。该条件的特征在于子宫外的子宫内膜细胞的存在和生长。对子宫内膜异位症的易感性取决于免疫，荷尔蒙，环境和遗传因素的复杂相互作用。虽然家族继承起作用，但似乎涉及多个候选基因。调查遗传变异对子宫内膜异位症的影响的新研究随着频率的增加公布。已经出现了许多技术以促进该领域的进展，包括降解cDNA杂交，以鉴定分泌子宫内膜基因，DNA芯片技术，差异显示聚合酶链反应，细胞遗传学评估的子宫内膜细胞和组织，以及蛋白质组学和信息学的互补方法。将枢转至子宫内膜异位症的基因的一种一般方法是使用聚合酶链反应系统地在选择性候选基因或染色体区域中系统地进行搜索。我们在这里描述了关于明显候选人的新型协会研究，包括治疗癌症易感性，激素敏感性或免疫学的基因。突变和多态性的评估可能允许疗法的个体化以及用于子宫内膜异位症的主要和二级预防策略，旨在高危人群。

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