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目的:研究染色体异常与男性不育之间的关系。方法:对在2007年3月~2010年3月期间,1 296例因不育前来吉林大学第一医院生殖中心进行遗传咨询的不育患者的外周血进行细胞培养(采用一生骏外周血淋巴细胞培养基),G显带核型分析。结果:1 296例患者中染色体核型异常120例,检出率为9.3%。其中性染色体异常98例,占咨询者的7.6%;常染色体异常22例,占咨询者的1.7%。120例染色体异常患者的核型分析结果显示,91例为47,XXY(其中3例为嵌合:2例核型为46,XY/47,XXY,1例核型为46,XX/47,XXY),所占的比例最多。结论:研究中不育男性的染色体异常比例与国内外报道相一致,且不育患者中染色体异常的比率高于正常人群。因此推荐不育男性进行常规的细胞遗传学检查,尤其是求助于卵胞浆内单精子注射技术(ICSI)等辅助生殖技术的患者。
Objective: To study the relationship between chromosomal abnormalities and male infertility. Methods: From March 2007 to March 2010, 1 296 infertile patients with genetic counseling who came to the Reproductive Center of First Hospital of Jilin University due to infertility were subjected to cell culture (using a lifetime of peripheral blood lymphocytes Cell culture medium), G-banding karyotype analysis. Results: There were 120 cases of chromosomal abnormalities in 1 296 cases, the detection rate was 9.3%. There were 98 cases of chromosomal abnormalities, accounting for 7.6% of consultants; autosomal abnormalities in 22 cases, accounting for 1.7% of consultants. The karyotype analysis of 120 patients with chromosomal abnormalities showed that 91 cases were 47 and XXY (3 cases were chimeric: 2 cases karyotype 46, XY / 47, XXY, 1 case karyotype 46, XX / 47, XXY), the largest share. CONCLUSIONS: The proportion of chromosomal abnormalities in infertile men is consistent with the reports at home and abroad, and the prevalence of chromosomal abnormalities in infertile men is higher than that in normal subjects. It is therefore recommended that infertile men undergo routine cytogenetic tests, especially those who seek assisted reproductive technology such as intracytoplasmic sperm injection (ICSI).