Y染色体单倍群与西南地区男性生精障碍的相关性

男性不育中,原发无精、少精是最为重要的因素之一,核型异常和无精子症因子(Azoospermia factor,AZF)微缺失能解释部分原发无精、少精的原因,然而还有许多致病因素尚不清楚。Y染色体作为男性特有的染色体,与男性生殖系统的正常功能密切相关。文章主要对Y染色体单倍群这一分子遗传背景与男性原发无精、严重少精症之间是否存在相关性进行探讨,为进一步探索原发无精、严重少精症的遗传学致病原因提供依据和可行的方向。采集265名生精障碍患者(原发无精症患者193名,原发严重少精症患者72名)以及193名正常男性样本的外周血,进行核型分析和AZF缺失分析,以排除有此两类异常的样本。将经过筛选的样本进行Y染色体单倍群分析,并对其单倍群分布情况进行统计分析。分析显示,生精障碍组和对照组分别在D1*、F*、K*、N1*和O3*上有显著性差异(P=0.032,0.022,0.009,0.009,0.017,<0.05)。Y染色体单倍群,这一Y染色体遗传背景与男性原发生精障碍的发生有相关性。

Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity

Supernumerary marker chromosome 15 （sSMC[15]） is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region （PWACR）. The clinical importance of the larger markers in association with the critical region is mentioned in almost all reports related to marker chromosome 15, and smaller markers are solely associated with minor dysmorphic features, azoospermia and recurrent miscarriages. However, these small sSMC（15）s without the PWACR may also determine a specific phenotype. A dysmorphic examination of an azoospermic patient in a genetics clinic was performed and was followed by a peripheral blood lymphocyte chromosomal analysis according to standard cytogenetic methods. Nucleolar region （NOR） banding, C-banding, fluorescence in situ hybridization and a molecular investigation of Y-microdeletions were also performed. The clinical evaluation identified dysmorphic features accompanied with azoospermia and severe ‘Angle Class Ⅱ, Division 1 Open Bite Deformity＇. The molecular cytogenetic study revealed the small sSMC（15）. In addition, a Y-microdeletion analysis showed that the azoospermia was not the result of a deletion. Although the presented case might represent a coincidental example of supernumerary marker 15 and mandibular anomaly association, the condition may also define a specific phenotype that may be more than azoospermia. This condition may be characterized by infertility, malar hypoplasia, mandibular anomaly, keloid formation and minor dysmorphic features.

无精子症和严重少／弱精子症ICSI子代与其他精子ICSI／IVF子代出生缺陷的比较研究

目的：观察无精子症和严重少／弱精子症患者借助卵胞质内单精子注射（ICSI）技术出生的子代与其他精子ICSI／体外受精（IVF）子代的出生缺陷情况。方法：将接受ICSI／IVF治疗的237对夫妇生育的300例子代按ICSI／IVF当日精液情况和受精方式分为附睾／睾丸精子ICSI组（A组，患者92例，子代118例）、严重少／弱精子ICSI组（B组，患者84例，子代106例）、非严重少／弱／畸形精子ICSI组（c组，患者35例，子代42例）、正常精子IVF组（D组，患者26例，子代34例）。对召回现场随访的子代进行出生缺陷病史询问、超声检查和无精子症因子（AZF）基因检测。结果：受访子代平均年龄为33．1±20．3（4-84）个月，新生儿出生缺陷率为1．7％（5／300），总出生缺陷率为4．7％（14／300），4组的出生缺陷率分别为5．1％（6／118）、3．8％（4／106）、2．4％（1／42）和8．8％（3／34），组间无统计学差异（P〉0．05）。112个家庭AZF基因检测显示B组有3对父子存在同样位点的AZF基因微缺失。结论：无精子症和严重少／弱精子症等严重男性不育症患者ICSI子代的出生缺陷发生率与其他较好精子或正常精子IVF子代相比无明显增加，AZF基因检测没有新增缺失位点和新增缺失病例。