59例染色体多态与生殖异常关系的探讨

To approach the relationship between 59 cases being polymorphism of chromosome and reproducing abnormal

目的探讨人类染色体结构多态变异与生殖异常的关系。方法按常规技术方法制备外周血淋巴细胞染色体,经G显带(必要时加做C显带、N显带)分析,对1198例遗传咨询者进行核型分析,检出异常核型103例。其中多态性变异59例,占4.92(。把多态性变异核型组与1095正常核型组分析比较其与不良生育史和不孕不育的关系。结果染色体多态变异组发生死胎、生育畸形儿、生育智障儿和生殖器官畸形、无精子症、弱精子症、少精子症、卵巢功能不全、睾丸发育不全的比率高于正常核型组,差异有显著性统计学意义(P<0.05,P<0.01)。结论染色体结构多态变异与生殖异常关系密切。进行相关研究、落实预防措施对实行优生优育、提高全民人口素质具有较大的现实意义。

Objective： To approach the relationship between human chromosome polymorphism and reproductive abnormality. Methods ： Based on cultivation of peripheral blood lymphocyte chromosome according the conventional techniques, 1198 cases of genetic consultant were on karyotype analysis by G - banded karyotype analysis, even C - banded and N - banded when necessary. There were 103 cases with abnormal karyotype and 59 cases with chromosome polymorphism among them （4.92% of cases）. Chromosome polymorphism group and normal karyotype group （1095 cases） have been compared to approach the relationship with bad fertility history and infertility. Results： The rate of fetal death, deformities infants, dysnoesia children, genitalia deformity, azoospermia, weak sperm motility, oligozoospermia, ovarian disfunction and testicle hypoplasia that happen in chromosome polymorphism group was higher than normal karyotype group. The difference has significant statistical significance （ P 〈0.05, P 〈0. 01 ）. Conclusion： Chromosome polymorphism is related to reproductive abnormality closely. To carry out relevant research and implement preventive measures have great practical significance to the prepotency and improving the quality of the population.