医学
外显子组测序
血缘关系
近亲婚姻
遗传学
基因
外显子组
生物
突变
作者
Yanan He,Run-Gui Xie,Jiwu Lou,Yanwei Li,Chunli Wang,Victor Wei Zhang,Dong-Zhi Li
摘要
To evaluate the utility of clinical exome sequencing (ES)-based carrier screening in Chinese consanguineous couples.Consanguineous couples were screened for autosomal recessive (AR) disorders using the clinical ES of 5000 genes associated with human diseases.We recruited 14 couples who elected to have sequencing. One couple was related as first cousins and 13 as second cousins. Both partners carrying the same pathogenic variant were detected in four couples. One couple was found in which one partner carried a splice variant, and the other had a missence variant of the same gene. These five couples were identified as being at risk of having a child affected by an AR disorder.Our study demonstrates that ES-based preconception screening yields a clinical value for Chinese consanguineous couples. It enables to detect at-risk couples for rare AR diseases.
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