Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

IF 3.8 3区医学 Q2 GENETICS & HEREDITY Human Genomics Pub Date : 2024-10-08 DOI:10.1186/s40246-024-00680-y

Qinlin Huang, Juan Wen, Hongyun Zhang, Yanling Teng, Wen Zhang, Huimin Zhu, Desheng Liang, Lingqian Wu, Zhuo Li

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引用次数: 0

Abstract

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.

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中国华南和西南地区基于 NGS 的扩大携带者筛查和随访的综合分析：3024 名中国人的结果。

研究背景本研究旨在利用扩大携带者筛查（ECS）对华南和西南地区的个体进行筛查，探讨华南和西南地区隐性遗传病的携带者状况，评估ECS应用的临床效果，并帮助识别妊娠早期可能患有遗传疾病的高风险胎儿，以提供更好的生育指导：方法：对 3024 名华南和西南地区个体（1512 对夫妇）进行了基于新一代测序的 220 种疾病的 ECS。分析携带者状况；重点分析变异频率高的基因和位点以及高风险夫妇（ARCs），以评估我们的 ECS 技术的临床实用性，并为他们提供精确的生育指导：总共在 1885 个个体中发现了致病/可能致病（P/LP）变异，因此携带者频率为 62.3%，其中 23.2% 的个体是多种疾病的携带者。此外，128 名 ARC 携带同一基因的 P/LP 变异，其后代的理论发病率高达 2.12%：本研究验证了我们的 ECS 技术在华南地区携带者筛查中的应用，可确定携带者状态，并为数百种遗传病提供准确的携带者频率。

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来源期刊

Human Genomics GENETICS & HEREDITY-

CiteScore

6.00

自引率

2.20%

发文量

审稿时长

11 weeks

期刊介绍： Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.