当前位置：
X-MOL 学术
›
Hum. Genomics
›
论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases
Human Genomics ( IF 4.5 ) Pub Date : 2024-01-31 , DOI: 10.1186/s40246-024-00577-w Xue Zhang , Qian Chen , Junnan Li , Xin Luo , Jianyun Luo , Jian Li , Ziye Zeng , Yan Wu , Hua Zhang , Yanling Dong
Human Genomics ( IF 4.5 ) Pub Date : 2024-01-31 , DOI: 10.1186/s40246-024-00577-w Xue Zhang , Qian Chen , Junnan Li , Xin Luo , Jianyun Luo , Jian Li , Ziye Zeng , Yan Wu , Hua Zhang , Yanling Dong
Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the Chinese population. A total of 3737 individuals from Southwest China or the general Chinese population, including 1048 pairs and 1641 individuals, were analysed by ECS for 155 monogenetic diseases. An ECS panel was used to detect 147 genes and 10,449 variants in 145 autosomal recessive and 10 X-linked recessive disorders. A total of 43.27% (1617/3737) were found to be carriers of at least one of the 155 monogenetic diseases. The average number of carriers of these recessive mutations was 0.54 and ranged from 0 to 4. Of the 1048 couples, 74.81% (n = 784) were found to have at least one partner carrying more than one disease. In addition, 5.34% of the couples at risk (n = 56) were heterozygous for the same autosomal recessive disease, and 0.37% of the women (9/2440) were carriers of X-linked diseases. Our study demonstrated the clinical significance of ECS in Chinese populations and the need for a programme of familial screening for the prevention of severe recessive monogenetic diseases.
更新日期：2024-01-31
京公网安备 11010802027423号