A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
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基于毛细管电泳的多重 PCR 检测在东部汉族人群中扩大携带者筛查
DOI：
10.1038/s41525-021-00280-y
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发表时间：
2022-01-25
影响因子：
5.3
通讯作者：
Xu Z
中科院分区：
文献类型：
--
作者：
Hu P;Tan J;Yu F;Shao B;Zhang F;Zhang J;Lin Y;Tao T;Jiang L;Jiang Z;Xu Z
扩大携带者筛查，一种夫妇生殖基因检测，在评估将某些遗传疾病传给后代的风险方面获得了极大的普及。在这里，使用基于毛细管电泳的多重PCR技术开发了448种致病性变体的载体筛选测定。基于毛细管电泳的多重PCR方法在检测特异性变异体时的灵敏度、特异性和准确性分别为97.4%、100%和99.6%。在1915对夫妇（3830人）中，708人（18.5%）被确定为至少一种疾病的携带者。在708名携带者中，633名（89.4%）为一种疾病杂合子，71名（10.0%）为两种疾病杂合子，3名（0.4%）为三种疾病杂合子，1名（0.1%）为四种疾病杂合子。同时，30对（1.57%）夫妇被确定为高危夫妇。本研究描述了一种廉价和有效的方法，扩大载体筛选。这种方法的简单性和准确性将有助于扩大载体筛选的临床实施。
Expanded carrier screening, a type of reproductive genetic testing for couples, has gained tremendous popularity for assessing the risk of passing on certain genetic conditions to offspring. Here, a carrier screening assay for 448 pathogenic variants was developed using capillary electrophoresis-based multiplex PCR technology. The capillary electrophoresis-based multiplex PCR assay achieved a sensitivity, specificity, and accuracy of 97.4%, 100%, and 99.6%, respectively, in detecting the specific variants. Among the 1915 couples (3830 individuals), 708 individuals (18.5%) were identified as carriers for at least one condition. Of the 708 carriers, 633 (89.4%) were heterozygous for one condition, 71 (10.0%) for two disorders, 3 (0.4%) for three disorders, and 1 (0.1%) for four disorders. Meanwhile, 30 (1.57%) couples were identified as at‐risk couples. This study describes an inexpensive and effective method for expanded carrier screening. The simplicity and accuracy of this approach will facilitate the clinical implementation of expanded carrier screening.
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影响因子：
3.5
作者：
Shi M;Liauw AL;Tong S;Zheng Y;Leung TY;Chong SC;Cao Y;Lau TK;Choy KW;Chung JPW
通讯作者：
Chung JPW
影响因子：
12.3
作者：
Prior TW
通讯作者：
Prior TW
影响因子：
5
作者：
Ding, Qianlan;Wu, Xi;Wang, Xuefeng
通讯作者：
Wang, Xuefeng
在夫妻中，有针对性的下一代测序分析会增加常染色体隐性疾病的风险。
影响因子：
3.7
作者：
Komlosi K;Diederich S;Fend-Guella DL;Bartsch O;Winter J;Zechner U;Beck M;Meyer P;Schweiger S
通讯作者：
Schweiger S
影响因子：
4.1
作者：
Hallam, Stephanie;Nelson, Heather;Kennedy, Caleb J.
通讯作者：
Kennedy, Caleb J.