摘要
目的研究无精子症和少精子症患者染色体畸变及Y染色体(Yq11区)无精子症因子(azoospermicfac-tor,AZF)微缺失情况,建立Y染色体微缺失的临床筛查方法。对原发性无精子及少弱精症患者与AZF微缺失的关系。方法对145例患者(无精子症102例,严重少精子症43例)经染色体核型分析及AZF的3个位点8对引物PCR扩增,检测染色体畸变和Y染色体微缺失率。选取6个Y染色体特异性序列标签位点(STS),用PCR技术检测145例精子发生障碍患者AZF区微缺失情况。结果145例中染色体核型异常12例,占8.3%。AZF区微缺失21例,缺失率为14.5%。无精子症和严重少精子症AZF缺失率分别为14.70%和11.62%。145例中AZF区微缺失21例,表现为无精子症。缺失均在AZFc区,7例为DAZ(sY254、sY255)缺失,另2例为DNA加sY157缺失。结论染色体畸变和Y染色体微缺失是导致无精子症和严重少精子症的主要原因之一。无精子症缺失率高于严重少精子症患者。AZF3个位点8对引物PCR扩增可作为Y染色体微缺失的临床筛查方法。
Purpose To study chromosome abnormity and the frequency of microdeletion on Y chromosoe for the patients suffering from azoospermia and severe oligozoospermia.To set up the method for screening of microdeletion on Y chromosome.To investigate the relationship between microdeletion of azoospermia factor(AZF) and male infertility. Methods We analysed the chromosome Karotype and frequency of microdeletion on Y chromosome by using 8 primers from three locus of AZF regions for 145 patients including 102 azoospermic cases and 43 severe oligozoospermic cases: PCR amplification was performed by using 8 primers from three locus of AZF regions.Six Y chromosome specific sequence-tagged-sites(STS) in AZF regions were screened and the microdeletions were determined by PCR in 145 patients with spermatogenetic malfunction. Results There were 11 cases(7.6%) with chromosome abnormity,and 21 cases with microdeletion on Y chromosome among 145 patients,the frequency of AZF microdeletion was up to 14.5%.The frequency of AZF microdeletion was up to 14.5%.The frequency of AZF microdeletion for azoospermia and severe oligozoospermia were 15.44% and 11.91%,respectively.Microdeletions in genomic DNA were observed in 7 cases who presented with azoospermia and limited to AZFc subregion.The total deletion rate was 4.8%. The deletion patterns of the 2 cases were DAZ(sY 254?sY 255) and DAZ plus sY 157,respectively. Conclusions It is one of the major causes that chromosome abnormity and microdeletion on Y chromosome lead to azoospermia and severe oligozoospermia. The frequency of AZF microdeletion for azoospermia is higher than oligozoospermia. PCR amplification can be used to screen microdeletion on Y Chromosome by using 8 primers from three locus of AZF regions.
出处
《复旦学报（医学版）》
CAS
CSCD
北大核心
2005年第4期460-462,共3页
Fudan University Journal of Medical Sciences
