摘要
目的研究染色体多态性与男性生殖异常的关系。方法对2009年1月-2016年1月在该院门诊就诊的2 482例男性遗传咨询者行外周血染色体核型分析和精子染色质结构分析。结果在2 482例男性遗传咨询者中检出染色体多态性核型54例,占2.18%。根据多态性变异分4种类型:1D/G组随体增加6例,占多态性的11.11%;2次缢痕增加(包括1、9、16号染色体)8例,占多态性的14.81%;3 9号染色体臂间倒位9例,占多态性的16.67%;4Y染色体多态性31例,占多态性的57.41%。1 424例不育男性遗传咨询者中检出染色体多态性核型48例,占3.37%;在456例无精症男性遗传咨询者中检出染色体多态性核型8例,占1.62%;在1 526例男性少精弱精遗传咨询者中检出染色体多态性核型32例,占2.10%。Y染色体多态性组男性DNA碎片率和精子畸形率明显高于正常对照组,其双链DNA率、精子密度和精子活率明显低于正常对照组,差异具有统计学意义(P<0.05),常染色体多态性组与正常对照组无差异。结论染色体多态性可以导致男性生殖异常,对有不育病史的男性应进行外周血染色体检查和染色质结构分析。
Objective To research the relationship between chromosomal polymorphism and male reproductive abnormalities. Meth- ods Chromosomal karyotype analysis in peripheral blood and sperm ehromatin structure analysis were performed among 2 482 men in Outpatient Department of the hospital from January 2009 to January 2016. Results Among 2 482 cases, 54 cases were found with chromosomal polymorphism, accounting for 2. 18%. The cases were divided into four types according to polymorphism variation: ( 1 ) 6 cases with increase of D/G group trabant, accounting for 11.11% ; (2) 8 cases with increase of secondary constriction ( including chromosome 1, 9, 16) , accounting for 14. 81% ; (3) 9 cases with pericentrie inversion of chromosome 9, accounting for 16.67% ; (4) 31 cases with Y chromosome polymorphism, accounting for 57.41%. Among 1 424 infertile cases, 48 cases were diagnosed as chromosome polymorphism, accounting for 3.37% ; among 456 cases with azoospermia, 8 cases were diagnosed as chromosome polymorphism, accounting for 1.62% ; among 1 526 cases with asthenospermia, 32 cases were diagnosed as chromosome polymorphism, accounting for 2. 10%. DNA fragment rate and sperm deformity rate in the cases with Y chromosome polymorphism were significantly higher than those in normal control group, the rate of double-stranded DNA, sperm density and sperm motility rate in the cases with Y chromosome polymorphism were significantly lower than those in normal control group, there were statistically significant differences ( P〈0. 05 ) , there was no statistically significant difference between autosomal polymorphism group and normal control group. Conclusion Chromosomal polymorphism can lead to male reproductive abnormalities, chromosomal examination and chromatin structure analysis in peripheral blood should be conducted in the men with a history of infertility.
作者
章鸯
宫剑
邢超
陈雪娇
ZHANG Yang GONG Jian XING Chao et al(Central Lab of Taizhou Hospital, Linhai, Zhejiang 317000, China)
出处
《中国妇幼保健》
CAS
2017年第5期1016-1018,共3页
Maternal and Child Health Care of China
关键词
染色体多态性
男性生殖异常
外周血染色体核型分析
精子染色质结构分析
Chromosomal polymorphism
Male reproductive abnormality
Peripheral blood chromosomal karyotype analysis
Sperm chromatin structure analysis