桂林地区10,664例不孕不育患者染色体多态性分析

Analysis of Chromosome Polymorphisms in 10,664 Infertility Patients in Guilin Area

摘要: 目的：探讨染色体多态性与生殖异常之间存在的关系。方法：采集患者外周静脉血进行淋巴细胞培养，G显带染色进行核型分析。结果：共检出染色体多态性变异1170例，检出率10.97%。其中1号染色体副缢痕增加661例，9号染色体副缢痕增加96例，16号染色体副缢痕增加33例；D/G组染色体随体区异常285例；D/G组染色体着丝粒异常18例；大Y染色体和小Y染色体异常31例；多重多态46例。结论：染色体多态性在不孕不育患者检出率较高，说明染色体多态性不但有临床效应而且与反复流产、胚胎停育、不良孕产及不孕不育等生殖异常明显相关。

Abstract: Objective: To explore the relationship between chromosome polymorphism and reproductive abnormalities. Methods: Peripheral venous blood of patients was collected for lymphocyte culture, and G-banding staining was performed for karyotype analysis. Results: A total of 1170 cases of chromosomal polymorphism variations were detected, with a detection rate of 10.97%. Among them, the number of accessory constrictions on chromosome 1 increased by 661 cases, that on chromosome 9 increased by 96 cases, and that on chromosome 16 increased by 33 cases; There were 285 cases of chromosomal abnormalities in the autosomal regions of the D/G group; There were 18 cases of chromosomal centromere abnormalities in the D/G group; There were 31 cases of abnormalities in the large Y chromosome and the small Y chromosome; There were 46 cases of multiple polymorphisms. Conclusion: The detection rate of chromosomal polymorphism is relatively high in infertile patients, indicating that chromosomal polymorphism not only has clinical effects but is also significantly associated with reproductive abnormalities such as repeated miscarriages, embryo arrest, adverse pregnancy and childbirth, and infertility.