摘要
目的:探讨人类染色体多态性与临床生殖异常的关系。方法:针对来我院遗传咨询的患者,进行常规外周血淋巴细胞培养,染色体G显带方法进行染色体核型分析。结果:在1068例遗传咨询者中,检出染色体多态性132例,检出率12.4%,明显高于普通人群发生率(2.6%),两者差异有统计学意义(P<0.05)。其中常染色体多态性100例,包括次缢痕增长(1/9/16号染色体)47例占多态核型35.6%,D/G组染色体短臂增长42例占多态核型31.9%,9号染色体臂间倒位11例占多态核型8.3%。Y染色体多态性32例占多态核型24.4%,其中Y染色体长臂qh+19例,Y染色体长臂qh-13例。结论:本文中染色体多态性变异检出率提示染色体多态性可能与生育异常诸如:不孕不育、习惯性流产、死胎畸胎、少弱精、无精症等具有相关性。
Objective： To investigate the relationship between chromosome polymorphism and clinical effect of reproductive abnormalities. Methods：The peripheral blood lymphocytes of the patients who came in for genetic counseling were prepared for G banding and karyotype analyses. Results： In total of all the 1068 cases, there were 132 cases of Chromosome polymorphism,and the detection rate was 12.4%. There were 100 cases of autosomal polymorphism, including 47 cases of secondary constriction increases（including 1/9/16 chromosomes）, accounting for 35.6% in the chromosome polymorphism. 42 cases of satellite increase in the D/G group, which accounted for 31.9% in the chromosome polymorphism.There were 11 cases of pericentric inversion of chromosome 9 and 32 cases of big or small Y chromosome, which accounted for 8.3% and 24.4% in the chromosome polymorphism respectively. Conclusions： The detection rate of chromosome polymorphism was significantly higher than that of the common people（2.6%）, and there was a statistically significant difference between the two. Chromosome polymorphism may be associated with reproductive abnormalities such as infertility,habitual abortion, stillbirth fetus, oligozoospermia and azoospermia.
出处
《交通医学》
2016年第1期51-53,57,共4页
Medical Journal of Communications
基金
重点病种的临床规范诊疗(HS2014073)
关键词
染色体多态性
核型分析
生殖异常
chromosome polymorphism
karyotype analysis
reproductive abnormality
