人类男性不育及其遗传原因。
Human male infertility and its genetic causes.
作者信息
Miyamoto Toshinobu, Minase Gaku, Shin Takeshi, Ueda Hiroto, Okada Hiroshi, Sengoku Kazuo
机构信息
Department of Obstetrics and Gynecology Asahikawa Medical University Asahikawa Japan.
Department of Urology Dokkyo Medical University Koshigaya Hospital Koshigaya City Japan.
出版信息
Reprod Med Biol. 2017 Mar 26;16(2):81-88. doi: 10.1002/rmb2.12017. eCollection 2017 Apr.
BACKGROUND
Infertility affects about 15% of couples who wish to have children and half of these cases are associated with male factors. Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations/deletions of several Y chromosome genes. Many researchers have analyzed genes in the AZF region on the Y chromosome; however, in 2003 the gene on chromosome 12 (12q23) was identified as causing azoospermia by meiotic arrest through a point mutation.
METHODS
We mainly describe the and genes that we have studied in our laboratory, and add comments on other genes associated with human male infertility.
RESULTS
Up to now, The 17 genes causing male infertility by their mutation have been reported in human.
CONCLUSIONS
Infertility caused by nonobstructive azoospermia (NOA) is very important in the field of assisted reproductive technology. Even with the aid of chromosomal analysis, ultrasonography of the testis, and detailed endocrinology, only MD-TESE can confirm the presence of immature spermatozoa in the testes. We strongly hope that these studies help clinics avoid ineffective MD-TESE procedures.
背景
不孕症影响着约15%希望生育的夫妇，其中一半病例与男性因素有关。无精子症的遗传原因包括染色体异常、Y染色体微缺失以及几个Y染色体基因的特定突变/缺失。许多研究人员分析了Y染色体上无精子症因子（AZF）区域的基因；然而，2003年，12号染色体（12q23）上的一个基因被确定通过点突变导致减数分裂停滞从而引起无精子症。
方法
我们主要描述我们实验室研究过的[具体基因1]和[具体基因2]基因，并对与人类男性不育相关的其他基因进行评论。
结果
到目前为止，已报道有17个基因因其突变导致人类男性不育。
结论
非梗阻性无精子症（NOA）引起的不孕症在辅助生殖技术领域非常重要。即使借助染色体分析、睾丸超声检查和详细的内分泌学检查，只有睾丸切开显微取精术（MD - TESE）才能确认睾丸中是否存在未成熟精子。我们强烈希望这些研究能帮助临床避免无效的MD - TESE手术。
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