摘要
目的:分析复发性自然流产与胚胎停育患者染色体异常状况。方法:收集2018年6月至2019年10月本院收治的300例复发性自然流产或胚胎停育患者临床资料,采用树脂及蛋白酶K提取患者绒毛或者胎儿组织标本的基因组DNA,并采用多重连接依赖式探针扩增技术(Multiplex ligation-dependent probe amplification,MLPA)检测患者染色体非整倍体异常。结果:300例标本中,染色体非整倍体异常158份(52.67%);三体及部分单体共133份,占所有染色体异常的84.18%。其中异常比例前五位分别为:16三体36份(12.00%);X0单体17份(5.67%);22三体12份(4.00%);13三体9份(3.00%);21三体8份(2.67%)。性染色体中,三体4份(1.33%);部分三体共11份(3.67%),其中17染色体最多;部分单体共9份(3.00%),以8及12染色体最多;同源染色体不平衡易位共2份(0.67%),其中以(8p-,8q+)易位最常见(2份);非同源染色体不平衡易位3份(1.00%)。结论:采用MLPA法检测复发性自然流产与胚胎停育患者染色体状况,具有高效、快捷等优点,染色体非整倍异常是导致复发性自然流产与胚胎停育的主要因素,其中16号染色体最为常见。
Objective:To analyze the chromosomal abnormalities in patients with recurrent spontaneous abortion and embryo damage.Methods:The clinical data of 300 patients with recurrent spontaneous abortion or embryo damage admitted in the hospital from June 2018 to October 2019 were analyzed.The resin and protease K were used to extract genomic DNA from patient’s villi or fetal tissue specimens.The multiplex ligation-dependent probe amplification(MLPA)was used to detect the chromosomal aneuploidy abnormalities in patients.Results:There were 158 cases of chromosomal aneuploidy abnormalities(52.67%)and 133 cases of trisomy and partial monosomy,accounting for 84.18%of all chromosomal abnormalities.The top five abnormal proportions were:36 cases of trisomy 16(12.00%),17 cases of X0 monosomy(5.67%),12 cases of trisomy 22(4.00%),9 cases of trisomy 13(3.00%)and 8 cases of trisomy 21(2.67%).Among the sex chromosomes,there are 4 cases of trisomy(1.33%),11 cases of partial trisomy(3.67%),of which chromosome 17 was the most.There were 9 cases of partial monosomy(3.00%).The chromosome 8 and 12 were the most.There were 2 cases of unbalanced translocation of homologous chromosome(0.67%),of which(8p-,8q+)translocatios was the most common(2 cases).There were 3 cases of unbalanced translocation of nonhomologous chromosome(1.00%).Conclusion:MLPA in detection of chromosomal status of patients with recurrent spontaneous abortion and embryo damage is efficient and fast.Chromosomal aneuploidy is the main cause of recurrent spontaneous abortion and embryo damage,of which chromosome 16 is the most common.
作者
王蕾
王艳丽
张超楠
李乐瑶
Wang Lei;Wang Yan-li;Zhang Chao-nan;Li Le-yao(Population and Family Planning Science and Technology Research Institute of Henan,National Health Commission Key Laboratory of Birth Defects Prevention,Henan Key Laboratory of Population Defects Intervention,Zhengzhou 450002,China)
出处
《四川生理科学杂志》
2020年第2期186-188,154,共4页
Sichuan Journal of Physiological Sciences
关键词
复发性自然流产
胚胎停育
染色体异常
多重连接依赖式探针扩增技术
Recurrent spontaneous abortion
Embryo damage
Chromosome abnormalities
Multiplex ligation-dependent probe amplification
作者简介
王蕾,女,主治医师,主要从事妇女保健工作,E-mail:zhengzkh@126.com。
