[1]章勤*,陈碧霞,张玉银,等.127例自然流产绒毛染色体微阵列检测及相关致病基因分析[J].中国计划生育和妇产科,2020,(1):38-41.
　ZHANG Qin*,CHEN Bi-xia,ZHANG Yu-yin,et al.Chromosome microarray detection of 127 cases of spontaneous abortion chorionic villus and related pathogenic gene analysis[J].Chinese Journal of Family Planning & Gynecotokology,2020,(1):38-41.
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127例自然流产绒毛染色体微阵列检测及相关致病基因分析
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《中国计划生育和妇产科》[ISSN:1674-4020/CN:51-1708/R]

卷:
期数:
2020年1期
页码:
38-41
栏目:
论著与临床
出版日期:
2020-01-25

文章信息/Info

Title:
Chromosome microarray detection of 127 cases of spontaneous abortion chorionic villus and related pathogenic gene analysis
作者:
章勤1*; 陈碧霞1; 张玉银1; 方园2
1.310007浙江杭州，杭州市中医院妇二科；2.215636江苏苏州，张家港蓝苏生物工程有限公司
Author(s):
ZHANG Qin1*;  CHEN Bi-xia1; ZHANG Yu-yin1; FANG Yuan2
1.2nd Gynecology Department，Hangzhou Hospital Of Traditional Chinese Medicine，Hangzhou Zhejiang 310007，2. Zhangjiagang Lansu Biological Engineering Co., Ltd.，Suzhou Jiangsu 215636，P.R.China
关键词:
自然流产; 染色体微阵列分析; 致病基因
Keywords:
spontaneous abortion;  chromosome microarray analysis;  pathogenic genes
分类号:
R 71421
摘要:
目的应用微阵列芯片技术检测早期自然流产绒毛组织，探讨其在自然流产遗传学诊断中的应用价值，并分析相关致病基因。方法收集2018年在杭州市中医院妊娠早期自然流产并行清宫术患者的胚胎组织标本 127例，进行染色体微阵列分析，并查找相关致病基因。结果125例标本获得检测结果，检出成功率984 %，染色体异常检出率528 %（66/125），染色体数目异常占456 %（57/125），染色体结构异常占72 %（9/125），在染色体结构异常的病例中，发现拷贝数变异样本6例，杂合性缺失样本2例，既有拷贝数变异也有杂合性缺失样本1例。发现流产相关致病基因6个，即NFATC 1、ERCC 6 L、RPS 4 X、KANK 1、SMARCA 2、PMP 22。结论染色体异常是妊娠早期自然流产主要病因，应用微阵列芯片技术检测自然流产绒毛组织，对于分析自然流产的原因有重要意义，为再次生育提供更多遗传学信息；NFATC 1、ERCC 6 L、RPS 4 X、KANK 1、SMARCA 2、PMP 22等基因变异可能是引起早期自然流产的致病基因。
Abstract:
ObjectiveTo detect the villus tissue of early spontaneous abortion by chromosome microarray analysis（CMA）, to explore its application value in the genetic diagnosis of spontaneous abortion, and analyze the related pathogenic genes. Methods127 embryonic tissue samples from patients with spontaneous abortion in early pregnancy in 2018 in Hangzhou Hospital Of Traditional Chinese Medicine were collected for CMA and detected the related pathogenic genes. Results125 samples were detected successfully, the success rate was 984 %, and the detection rate of chromosomal abnormalities was 528 % (66/125). Chromosome number abnormalities accounted for 456 % (57/125) ，and chromosome structure abnormalities accounted for 72 % (9/125). Among the cases with chromosome structural abnormalities, 6 cases had copy number variation, 2 cases had heterozygosity deletion, and 1 case had both kinds of defect. Six pathogenic genes related to spontaneous abortion were found, namely NFATC 1, ERCC 6 L, RPS 4 X, KANK 1, SMARCA 2 and PMP 22. ConclusionChromosome abnormality is the main cause of spontaneous abortion in early pregnancy. Detecting the villus tissue of spontaneous abortion by microarray technology is of great significance for analyzing the causes of spontaneous abortion and providing more genetic information for reproduction.The gene mutations of NFATC 1, ERCC 6 L, RPS 4 X, KANK 1, SMARCA 2 and PMP 22 may closely related to spontaneous abortion.

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备注/Memo

备注/Memo:
浙江省自然基金(项目编号：Y14H040006)
更新日期/Last Update: 2020-01-25