Hum Reprod Update. 2008 Jul-Aug;14(4):293-307. doi: 10.1093/humupd/dmn009. Epub 2008 Apr 2.
Sexual reproduction provides the means for preserving genetic identity and in turn, genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders.
Searches were done by subject in Medline and other databases, and each subject summary was presented to the Workshop Group and omissions or disagreements were resolved by discussion.
Single-gene defects are most likely to be found among patients with hypogonadotropic hypogonadism, which may be due to defects in the KAL genes or the gonadotrophin-releasing hormone receptor genes. With premature ovarian failure there is an increased risk of having a premutation of the Fragile X syndrome gene. Complex genetic inheritance may explain the variable familial links in polycystic ovary syndrome and endometriosis, but no definitive genetic pathways are as yet known. With recurrent miscarriage, genetic defects causing thrombophilias are 2-fold more likely. Chromosome abnormalities account for approximately 60% of all spontaneous abortions, and the most common type, trisomy, is closely associated with advanced maternal age. Three percent of couples have a balanced chromosome abnormality, but live birth rates are better with natural conception than with preimplantation genetic diagnosis.
Understanding of the methods used for genetic diagnosis and research is becoming a standard requirement for the clinical practice of reproductive medicine.
有性生殖为保存基因特性提供了途径，而基因变异性反过来可能影响生殖能力。本综述旨在总结目前关于生殖障碍的基因诊断及基因病因的研究。
通过在Medline及其他数据库中按主题进行检索，每个主题摘要提交给研讨会小组，遗漏或分歧通过讨论解决。
单基因缺陷最有可能在低促性腺激素性性腺功能减退患者中发现，这可能是由于KAL基因或促性腺激素释放激素受体基因缺陷所致。对于卵巢早衰，脆性X综合征基因发生前突变的风险增加。复杂的遗传遗传可能解释多囊卵巢综合征和子宫内膜异位症中可变的家族联系，但目前尚无明确的遗传途径。对于复发性流产，导致血栓形成倾向的基因缺陷可能性高出2倍。染色体异常约占所有自然流产的60%，最常见的类型三体，与母亲年龄较大密切相关。3%的夫妇存在染色体平衡异常，但自然受孕的活产率优于植入前基因诊断。
了解基因诊断和研究方法正成为生殖医学临床实践的标准要求。
