深圳地区2952例不孕不育患者外周血淋巴细胞遗传学分析

Genetic analysis of peripheral blood lymphocyte in 2952 infertile patients in Shenzhen area

目的了解深圳深圳地区不孕不育患者外周血淋巴细胞染色体核型异常情况,并探讨染色体异常与生育障碍之间的相关性。方法选取2017年10月~2020年05月来深圳地区两家区属三级人民医院就诊的不孕不育患者2952例,对患者外周血进行淋巴细胞培养,然后进行G显带核型检测,分析其染色体核型异常检出率及异常类型,并探讨染色体异常与生育障碍之间的相关性。结果2952例不孕不育患者中检出染色体异常301例,异常率10.20%(301/2952)。其中男性检出204例,异常率为12.52%(204/1629),明显高于女性的7.33%(97/1323),差异有统计学意义(χ~2=4.0652,P<0.05)。染色体多态性改变最为常见,异常率为57.48%(173/301),明显高于常染色体异常率的23.59%(71/301)和性染色体异常率的18.94%(57/301),差异均有统计学意义(χ~2=5.1972~5.8034,P<0.05);染色体多态性改变以46,XY,Y<21最为常见,占56.07%(97/173),常染色体异常以45,XY,rob(13;14)(p10q10)最为常见,占15.25%(9/59),而性染色体异常以47,XXY最为常见,占47.37%(27/57)。结论深圳地区不孕不育患者外周血淋巴细胞染色体核型有一定的异常率,染色体异常是导致本区男、女不孕不育的重要原因之一。因此,加强不孕不育患者染色体检查,对不孕不育患者的诊断及指导优生优育具有重要意义。

Objective:To investigate the chromosomal karyotype abnormalities of peripheral blood lymphocytes in infertility patients in Shenzhen area,and to explore the correlation between chromosomal abnormalities and fertility disorders.Method:selection in October 2017 to May 2020 in Shenzhen area two belongs to level 3 people′s hospital,2952 cases of infertility patients,for patients with peripheral blood lymphocyte culture,then G banding karyotype detection,analysis of the abnormal chromosome karyotype detection rate and abnormal types,and explore the correlation between abnormal chromosome and reproductive disorders.Results:301 cases of chromosome abnormality were detected in 2952 infertility patients,the abnormal rate was 10.20%(301/2952).Among them,204 cases were detected in males,the abnormal rate was 12.52%(204/1629),which was significantly higher than 7.33%(97/1323)in females,the difference was statistically significant(χ~2=4.0652,P<0.05).Changes in chromosome polymorphism were the most common,the abnormal rate was 57.48%(173/301),which was significantly higher than 23.59%(71/301)of the autosomal abnormality rate and 18.94%(57/301)of Sex chromosome abnormality rate,the difference was statistically significant(χ~2=5.1972~5.8034,P<0.05).The most common Changes in chromosome polymorphism was 46,XY,Y<21,accounting for 56.07%(97/173),the most common autosomal abnormalities was 45,XY,rob(13;14)(p10q10),accounting for 15.25%(9/59),while the most common Sex chromosome abnormality was 47,XXY,accounting for 47.37%(27/57).Conclusion:The chromosome karyotype of peripheral blood lymphocytes in infertility patients in shenzhen area is abnormal,which is one of the important reasons for male and female infertility.Therefore,it is of great clinical significance to strengthen the chromosome examination of infertility patients for the diagnosis and treatment of infertility patients.