基因分型
核型
概念产品
生物
比较基因组杂交
流产
微卫星
遗传学
微阵列
聚合酶链反应
染色体
怀孕
基因型
流产
基因
基因表达
等位基因
作者
YX Zhang,Yuqiu Gu,Guan Fj,Li Sl,Xie Js,Yanyan Shen,Wu Bl,Ju Wang,Jenkins Ec,Brown Wt,Nan Zhong
标识
DOI:10.1111/j.1399-0004.2008.01131.x
摘要
Miscarriage is the spontaneous loss of an embryo or fetus before the 20th week of pregnancy. Most miscarriages occur before the end of the first trimester (<13 weeks). Although many risk factors relate to this occurrence, genetic factors play the most important role. Chromosomal abnormalities, including both numerical and structural anomalies, underlie the majority of miscarriages. In this study, we employed a comprehensive approach using cytogenetic karyotyping, polymerase chain reaction (PCR)‐based genotyping, and microarray‐based comparative genomic hybridization (arrayCGH) in combination to analyze chromosomal profiles of 115 first‐trimester miscarriages of Chinese women. Seventy cases (61%) were found to have chromosomal anomalies, of which 90% were numerical and 10% were structural. Cytogenetic karyotyping identified 78.6% (55/70), PCR assays 2.9% (2 triploids), and arrayCGH 18.6% (13/70) of the anomalies. In this study, a microdeletion of 108 kb and four microduplications sizing from 300 to 1460 kb were observed. An advantage of using this combination approach is that microsatellite genotyping and arrayCGH can be accomplished in spite of culture failure and maternal cell contamination. In addition, arrayCGH can detect submicroscopic chromosomal anomalies and gene dosage alterations.
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