摘要
目的研究早期稽留流产胚胎染色体异常与脆性X智力障碍1号基因(FMRI)CGG重复序列的相关性。方法选取200例早期稽留流产患者,收集其外周血及胚胎染色体,根据绒毛染色体是否正常分为正常染色体组(104例)与异常染色体组(96例)。采用Amplide X检测技术进行FMR1基因CGG重复序列数检测,比较不同胚胎染色体组FMR1基因CGG重复序列情况。结果异常染色体组患者FMR1基因检测结果显示:CGG重复序列最大频率等位基因N=29(73/192,38.02%),其次为30(61/192,31.77%)、36(18/192,938%)、31(17/192,8.85%),37(8/192,4.17%)。正常染色体组患者FMR1基因检测结果显示:CGG重复序列最大频率等位基因N=29(69/208,33.17%),其次为30(68/208,32.69%)、31(17/208,8.17%)、37(12/208,5.77%)、36(11/208,5.29%)。正常型CGG重复数胚胎异常染色体组与正常染色体组CGG重复序列均数分别为(30.30±3.07)、(30.49±3.57)次,比较差异无统计学意义(P>0.05)。低重复组胚胎异常染色体组与正常染色体组CGG重复序列均数分别为(30.07±1.08).(29.92±1.60)次,比较差异无统计学意义(P>0.05)o高重复组胚胎异常染色体组与正常染色体组CGG重复序列均数分别为(36.60±1.26).(37.29±2.30)次,比较差异无统计学意义(P>0.05)。结论FMR1基因CGG重复序列正常型与稽留流产胚胎染色体的异常发生率不存在相关性。
Objective To study the correlation between chromosomal abnormalities of early missed abortion embryos and CGG repeat sequence of fragile X mental retardation gene 1(FMRI)gene.Methods 200 patients with early missed abortion were selected,and their peripheral blood and embryonic chromosomes were collected.According to whether the villi chromosomes were normal,they were divided into normal chromosome group(104 cases)and abnormal chromosome group(96 cases).Amplide X technique was used to detect the number of CGG repeats of FMRI gene and compare the CGG repeats of FMRI gene in different embryonic chromosomal groups.Results The results of FMRI gene detection in patients with abnormal chromosome group showed that the maximum frequency allele of CGG repeat sequence N=29(73/192,38.02%),followed by 30(61/192,31.77%),36(18/192,9.38%),31(17/192,8.85%),37(8/192,4.17%).The results of FMRI gene detection in patients with normal genome showed that the maximum frequency allele of CGG repeat sequence N=29(69/208,33.17%),followed by 30(68/208,32.69%),31(17/208,8.17%),37(12/208,5.77%),36(11/208,5.29%).The average number of CGG repeats in normal type abnormal chromosome group and normal chromosome group were(30.30±3.07)and(30.49±3.57)times,respectively,with no significant difference(P>0.05).The mean number of CGG repeats in the low duplication group was(30.07±1.08)and(29.92±1.60)respectively,with no significant difference(P>0.05).The mean number of CGG repeats in the high duplication group was(36.60±1.26)and(37.29±2.30)respectively,with no significant difference(P>0.05).Conclusion Normal copy number of FMRI gene CGG repeat might not be associated with embryo chromosome abnormality.
作者
谢文霞
门晓亮
刘景超
赵雪
余碧波
孟宪芹
张盼
赵卫卫
张河新
赵丽萍
Xie Wenxia;Men Xiaoliang;Liu Jingchao;Zhao Xue;Yu Bibo;Meng Xianqin;Zhang Pan;Zhao Weiwei;Zhang Hexin;Zhao Liping(Department of Gynecology,Beijing Daxing Maternal and Child Health Hospital,Beijing 102600,China;Medical Department,Beijing Daxing Maternal and Child Health Hospital,Beijing 102600,China)
出处
《实用妇科内分泌电子杂志》
2022年第6期1-5,共5页
Electronic Journal of Practical Gynecological Endocrinology
基金
吴阶平医学基金会临床科研专项资助项目(编号320.6750.17037)。
