男性不育症患者外周血染色体核型分析的临床意义  

The clinical significance analysis of the cytogentic abnormality in the infertile males

作　　者：陈亮[1] 付杰[1] 于丽[1] 齐雯[1] 马京梅[1] 潘虹[1] 陈菲[1] 张娜[1] 王晟[1] 鞠慧岩[1] 薛晴[1] 左文莉[1] 徐阳[1] 杨慧霞[1] 

机构地区：[1]北京大学第一医院生殖与遗传医疗中心,北京100034

出　　处：《中国男科学杂志》2014年第2期14-18,共5页Chinese Journal of Andrology

基　　金：北京市自然科学基金资助项目（编号：7142158）

摘　　要：目的：基于外周血染色体核型分析，探讨男性不育症患者染色体核型异常的特点及临床意义。方法回顾性分析男性不育患者的外周血染色体核型分析结果，对异常核型的检出率及临床效应进行分析与总结。结果在813例患者中，检出染色体异常55例，检出率为6.76%。其中，染色体数目异常36例，检出率为4.43%，占总异常数目的65.4%；染色体结构异常17例，检出率为2.09%，占总异常数目的30.91%；假两性畸形2例（核型为46, XX，社会性别为男性）。其中，最常见的染色体数目异常为46, XXY，即克氏征（非嵌合型）；最常见的结构异常为染色体相互易位14例，其中罗氏易位5例，涉及13、14、15、22及22号等染色体。导致男性不育临床效应的直接表现分别为少、弱、畸形精子症以及无精子症等。另外，共检出44例染色体多态性，检出率为5.41%。其中，常染色体多态性11例，检出率为1.35%，占总多态性数目的25%（11/44），表现为随体变异及次缢痕增长。Y染色体的多态性包括大Y核型21例，检出率为2.58%，占多态性总数目的44.73%（21/44）；小Y核型12例，检出率为1.48%，占多态性总数目的27.27%（12/44）。最常见的多态性为Y染色体的变异，其次是常染色体的多态性。染色体多态性导致男性不育临床效应的直接表现为少、弱、畸形精子症及无精子症等。结论染色体异常及多态性变异均可能是导致男性生育力低下的重要因素，主要包括性染色体数目异常（非嵌合克氏征）、Y染色体多态性、染色体倒位及易位等。对于男性不育症，染色体核型分析是重要的辅助诊断依据，应用ICSI技术能解决部分遗传相关男性不育患者的体外受精问题，合理应用PGD技术进行移植前胚胎选择，能避免遗传缺陷的传代，具有重要临床意义。Objective To investigate the clinical significance of the cytogenetic abnormality in the infertile males. Methods Cytogenetics of patients was examined by culturing peripheral-blood lymphocyte and G-banding technology, and karyotyping analysis technique were used to study the abnormality and the polymorphism of chromosomes. Results Of 813 infertile men, 55 （6.76%） were detected to have chromosomal abnormalities in chromosomal analysis, including 36 cases with the numeric abnormality （4.43%）, 17 cases with chrom osomal rearrangement （2.09%）. In 55 cases with chromosomal abnormalities, the constituted ratios of numeric aberration and the rearrangement were 65.4%and 30.91%respectively. Two cases of male pseudohermaphroditism were detected. Klinefelter syndrome and balanced reciprocal translocations were the most common aberration of the chromosomal abnormalities. In addition, 44 cases were detected to have polymorphic variations （5.41%,44/813）, including 11 cases with the somatic chromosomal polymorphic variations （1.35%,11/813）, 21 cases with the big Y（2.58%,21/813） and 12 cases with bit Y chromosomal（1.48%,12/813）. The somatic chromosomal polymorphism included secondary constriction increases, satellite increases in the D/G group. Y chromosomal polymorphism was the most common chromosomal polymorphism. The main clinical features of the male infertility attributing to the chromosomal abnormality and polymorphism were azoospermia, abnormal spermatozoa （oligozoospermia, asthenospermia and teratozoospermia）. Conclusion Chromosome and abnormality polymorphisms showed negative effects on the male fertile function. The infertile males with chromosomal abnormality or polymorphisms definitely had an increasing risk in heredity. Karyotype testing screening is necessary for the infertile males, and PGD is helpful to decrease the genetic risk.

关 键 词：不育 男性 染色体畸变 多态现象 遗传 核型分析 

分 类 号：R698.2[医药卫生—泌尿科学] R394.22[医药卫生—外科学]