无精症及严重少精症患者Y染色体微缺失及细胞遗传学研究  

Study on the Y Chromosome Microdeletions and Cytogenetics in the Patients with Azoospermia and Severe Oligozoospermia

作　　者：杨欢利[1] 毛英姿[1] 诸溢扬[1] 陈辉波[1] 

机构地区：[1]温州医学院附属台州医院生殖中心,317000

出　　处：《医学研究杂志》2012年第12期106-109,共4页Journal of Medical Research

摘　　要：目的通过多重PCR及细胞遗传学技术,探讨导致男性无精症及严重少精症的遗传原因,调查无精症及严重少精症患者Y染色体微缺失及染色体异常的类型及分布频率。方法利用Y染色体上15个特异性序列标签(STS)设计引物,采用多重PCR的方法对无精症及严重少精症组73例对象、精液正常对照组138例对象的外周血DNA进行Y染色体微缺失的分子遗传学检测,同时采用外周血淋巴细胞培养G显带方法进行细胞遗传学分析。结果无精症及严重少精症患者Y染色体微缺失发生的频率为9.6%,缺失的位点涉及到AZF(无精子因子)的3个区域,其中AZFb缺失率为1.4%,AZFc缺失率为8.2%,AZFd缺失率为9.6%,缺失率极显著的高于精液正常对照组(P<0.01);细胞遗传学研究检测到7例染色体核型异常,异常核型频率为9.6%,正常精液对照组未检测到染色体核型异常,两者染色体核型异常率差异极显著(P<0.01)。结论不育男性特别是无精症及严重少精症患者染色体核型异常及Y染色体微缺失的发生率较高,Y染色体微缺失及细胞遗传学检测可为不育患者提供治疗前的遗传咨询,避免遗传缺陷垂直传递给后代。Objective To investigate the genetic reasons and find the frequency and types of the Y chromosome microdeletions and chromosomal abnormalities of azoospermia and severe oligozoospermia by using multiplex polymerase chain reaction and cytogenetic tech- nique. Methods The primers were designed according to the fifteen specific sequence tagged sites of the Y chromosome. The peripheral blood DNA of the azoospermia and severe oligozoospermia group （n = 73） and normal control group （n = 138） were isolated and the mo- lecular genetics detection of the Y chromosome microdeletions was performed by using the multiplex polymerase chain reaction. Cell genet- ics analyses was performed on the peripheral blood lymphoeytes with G -banning. Results Y chromosome microdeletions were detected in 9.6% of azoospermia and severe oligozoospermia patients. The types of site deletion referred to the three domains of azoospermia factor （AZF）. The miss rate of AZFh,AZFc and AZFd was found to be 1.4% ,8.2% and 9.6% respectively and the difference was extremely significant comparing with normal control group（ P 〈 0.01 ）. Six abnormal karyotypes were detected by cell genetics and the frequency was found to be 9.6%. There was no chromosome abnormality be detected in normal control group. The difference was extremely significant comparing with normal control group（P 〈 0.01 ）. Conclusion The incidence rate of chromosomal karyotype abnormality and the Y chro- mosome microdeletions are more high in infertile males especially with azoospermia and severe oligozoospermia. The Y chromosome mi- erodeletions and cell genetics analysis can provide genetic counseling prior to treatment and to avoid the genetic deficiency descend to off- spring vertically.

关 键 词：无精症及严重少精症 Y染色体微缺失 细胞遗传学 

分 类 号：R698.2[医药卫生—泌尿科学]