基于 NGS 的扩展携带者筛查的综合分析及中国南方和西南部的随访：来自 3024 名中国人的结果。
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
机构信息
Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China.
Laboratory of Molecular Genetics, Hunan Jiahui Genetics Hospital, Changsha, Hunan, China.
出版信息
Hum Genomics. 2024 Oct 8;18(1):111. doi: 10.1186/s40246-024-00680-y.
BACKGROUND
This study aimed to screen southern and southwestern Chinese individuals using expanded carrier screening (ECS), which explores the carrier status of recessively inherited diseases in southern and southwestern China, evaluates the clinical effectiveness of ECS application, and helps recognize high-risk fetuses that may have genetic disorders early in pregnancy, to provide better reproductive guidance.
METHODS
ECS for 220 diseases based on next-generation sequencing was performed on 3024 southern and southwestern Chinese individuals (1512 couples). Carrier status was analyzed; genes and loci with high frequencies of variants and on high-risk couples (ARCs) were focused to evaluate the clinical utility of our ECS technology and provide them precise fertility guidance.
RESULTS
In total, Pathogenic/likely pathogenic(P/LP) variants were found in 1885 individuals, so the carrier frequency was 62.3%, and 23.2% of the individuals were carriers of multiple diseases. furthermore, 2837 variants were detected, and the average number of P/LP variants carried per subject was 0.938. Additionally, 128 ARCs carried P/LP variants of the same gene, and the theoretical incidence rate in their offspring was as high as 2.12%.
CONCLUSION
This study validated the application of our ECS technique for carrier screening in southern China, identifying carrier status and providing accurate carrier frequencies for hundreds of genetic diseases.
背景
本研究旨在通过扩展携带者筛查（ECS）对中国南方和西南地区个体进行筛查，以探索中国南方和西南地区隐性遗传病的携带者状态，评估 ECS 应用的临床效果，帮助识别可能在妊娠早期存在遗传疾病的高危胎儿，从而提供更好的生殖指导。
方法
对 3024 名中国南方和西南地区个体（1512 对夫妇）进行了基于下一代测序的 220 种疾病的 ECS。分析了携带者状态；重点关注具有高频变异和高风险夫妇（ARCs）的基因和基因座，以评估我们的 ECS 技术的临床效用，并为他们提供精确的生育指导。
结果
共发现 1885 名个体存在致病性/可能致病性（P/LP）变异，因此携带者频率为 62.3%，23.2%的个体携带多种疾病。此外，检测到 2837 个变异，每个个体携带的 P/LP 变异平均数量为 0.938。此外，128 对 ARC 携带相同基因的 P/LP 变异，其后代的理论发病率高达 2.12%。
结论
本研究验证了我们的 ECS 技术在中国南方进行携带者筛查的应用，确定了携带者状态，并为数百种遗传疾病提供了准确的携带者频率。
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