306对复发性自然流产夫妇外周血染色体异常和多态性分析

Analysis the chromosome abnormality and polymorphism in peripheral blood of patients with recurrent spontaneous abortion

目的通过对深圳宝安区复发性自然流产(recurrent spontaneous abortion,RSA)夫妇外周血染色体异常和多态性分析,探讨RSA与染色体异常之间的相关性。方法收集2014年5月～2017年12月来深圳宝安区第二人民医院集团总医院医院就诊的RSA患者夫妇306对,对其外周血淋巴细胞培养,然后进行G显带染色体核型分析,必要时行C和N显带染色体核型分析。结果 306对(612例)RSA夫妇共检出染色体核型异常43例,异常检出率为7.03%(43/612),其中染色体多态性变异检出率最高,占51.16%(22/43),明显高于染色体结构异常率的44.19%(19/43)和数目异常率的4.65%(2/43),差异有统计学意义(χ~2=2.502～9.365,P<0.05)。多态性变异中以1、9、16号染色体次缢痕增长最为常见,占50.0%,明显高于其它类型的多态性变异,差异有统计学意义(χ~2=4.915～12.068,P<0.05)。染色体结构异常中以平衡易位最为常见,占68.42%,明显高于其它结构异常,差异有统计学意义(χ~2=3.618～11.925,P<0.05),而染色体数目异常中只见性染色体三体(47,XXY),未发现其它异常。女性染色体结构异常率为30.23%,明显高于男性,差异有统计学意义(χ~2=3.672,P<0.05),而男性染色体数目和多态性变异率分别为4.65%和34.88%,明显高于女性,差异有统计学意义(χ~2=2.836～3.705,P<0.05)。结论染色体异常是导致深圳宝安区RSA发生的一个重要原因之一,其中染色体结构和多态性异常是导致RSA发生的主要因素。因此,对RSA患者夫妇双方进行染色体异常分析对优生优育及RSA预防和治疗具有重要意义。

Objective:Through analysis the peripheral blood chromosome abnormality and polymorphism of recurrent spontaneous abortion(recurrent what abortion,RSA)in shenzhen baoan district,explore the correlation between RSA and chromosomal abnormalities. Methods:To collect May 2014 to December 2017 come to shenzhen baoan second people′s hospital group general hospital couple of 306 patients with RSA and the peripheral blood lymphocyte culture,then G banding karyotype analysis,necessary:C and N banding karyotype analysis. Results:306(612)RSA couple were detected abnormal chromosome karyotype 43 cases,abnormal detection rate was 7.03%(43/612),including chromosome polymorphism variation detection rate is highest,51.16%(22/43),significantly higher than the chromosome structural abnormalities rate 44.19%(19/43)and the number of the abnormal rate of 4.65%(2/43),difference was statistically significant(χ~2=2.502~9.365,P<0.05).In polymorphic variation,the growth was most common in chromosome 1,9 and 16,which accounted for 50.0%,which was significantly higher than other types of polymorphism variation,and the difference was statistically significant(χ~2=4.915~12.068,P<0.05). Chromosome structural abnormalities in balanced translocation is the most common,accounting for 68.42%,significantly higher than the other structural abnormalities,the difference was statistically significant(χ~2=3.618~11.925,P<0.05),and only sex chromosome in abnormal chromosome number three body combinations(47,XXY),did not find other anomalies. Female chromosome structure abnormal rate was 30.23%,significantly higher than the male,the difference was statistically significant(χ~2=3.672,P<0.05),while the male chromosome number and polymorphism variation rate were4.65% and 34.88%,significantly higher than women,the difference was statistically significant(χ~2=2.836~3.705,P<0.05).Conclusion:Chromosome abnormality is one of the important reasons for the occurrence of RSA in baoan area in shenzhen. The chromosome structure and polymorphism are the main factors that lead to RSA. Therefore,it is of great significance to carry out chromosomal abnormality analysis on the patients of RSA and the prevention and treatment of RSA.