【摘要】 目的研究分析夫妇染色体核型异常与复发性流产的相关性。方法抽取2010年1月至2014年1月聊城市第二人民医院收治的684对复发性流产夫妇为研究对象,对其外周血进行染色体核型分析以及核苷酸多态性分析。结果复发性流产夫妇中染色体核型异常155例,总检出率为11.3%。染色体核型异常女性88例,其染色体核型异常以平衡易位(34.4%)、罗伯逊易位(22.7%)和核苷酸多态性(29.5%)为主,其次为倒位(11.4%)和X染色体失活(2.3%)。男性染色体异常中核苷酸多态性为最主要类型(37.3%),其次为平衡易位(29.9%)、罗伯逊易位(12.5%)以及倒位(11.9%),Y染色体异常所占比例最小(4.5%)。男女受检者均存在明显易栓症相关基因、细胞因子基因、KIR基因、HLA基因的多态性。结论染色核型异常以及单核苷酸多态性为引起复发性流产的主要原因。临床上诊断治疗应以夫妇双方的染色体核型及核苷酸多态性检查为主,并可辅助绒毛活检、羊水穿刺以及胚胎遗产学检查,从而实现优生优育。更多还原

【Abstract】 Objective To analyze the correlation of abnormal chromosome karyotype and recurrent abortion. Methods From January 2010 to January 2014,sixty hundrad and eighty four recurrent abortion couples were selected as the research object,the peripheral blood chromosome karyotype and the nucleotide polymorphisms were analyzed. Results Abnormal karyotype in recurrent abortion couples for 155 cases,the total detection rate was 11. 3%. Eight-eight cases of abnormal chromosome karyotype women,the abnormal chromosome karyotype with balanced translocation( 34. 4%),robertsonian translocation( 22. 7%) and nucleotide polymorphisms( 29. 5%),followed by inversion( 11. 4%) and X chromosome inactivation( 2. 3%). Male chromosome abnormality of nucleotide polymorphisms as the major type( 37. 3%),followed by balanced translocation( 29. 9%),robertsonian translocation( 12. 5%) and inversion( 11. 9%),the smallest proportion of Y chromosome abnormality( 4. 5%). Male and female subjects were significantly thrombophilia related genes,cell factor,KIR genes,the polymorphism of HLA genes.Conclusion Abnormal karyotype of dyeing and single nucleotide polymorphism is the main cause of recurrent miscarriage. The clinical diagnosis and treatment should check with a couple of chromosome karyotype and nucleotide polymorphism,and can assist the amniotic fluid puncture biopsy,and embryo heritage studies,so as to realize the eugenics.更多还原