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目的探讨人体生殖异常和染色体结构多态变异的关系。方法选取2005年1月至2013年6月我院接收进行核型分析遗传咨询者1 024例,有正常核型926例,设为正常核型组;有异常核型98例,其中多态性变异52例,设为多态性变异组,比较两组患者的不良生育史、不孕不育的关系。结果多态性变异组的不良生育史发生率及不孕不育发生率明显高于正常核型组,差异有统计学意义(P<0.05)。结论人体染色体结构多态变异和人体生殖异常有紧密联系,针对染色体异常的产前诊断可有效预防染色体异常患儿的出现,这对推进优生优育的实施、增强全民身体素质有重要意义。
Objective To explore the relationship between human reproductive abnormalities and polymorphic variation of chromosome structure. Methods From January 2005 to June 2013, 1 024 genetic counselors who received karyotyping in our hospital were enrolled. There were 926 normal karyotypes, which were set as normal karyotype group. There were 98 abnormal karyotypes, of which polymorphism Variation in 52 cases, as a polymorphism mutation group, to compare the two groups of patients with poor birth history, the relationship between infertility. Results The incidence of unhealthy birth and the incidence of infertility in the polymorphism mutation group were significantly higher than those in the normal karyotype group (P <0.05). Conclusion There is a close relationship between human chromosome abnormalities and prenatal diagnosis of human chromosomes. Prenatal diagnosis of chromosomal abnormalities can effectively prevent the appearance of chromosomal abnormalities in children. It is of great significance to promote the implementation of prenatal and postnatal care and enhance the physical fitness of all citizens.