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NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-09-03 , DOI: 10.1038/s41431-020-00714-8
Sumin Zhao 1, 2 , Wanyang Wang 1, 2 , Yaoshen Wang 1, 2 , Rui Han 1, 2 , Chunna Fan 1, 2 , Peixiang Ni 1, 2 , Fengyu Guo 1, 2 , Fanwei Zeng 3 , Qiaona Yang 3 , Yun Yang 3 , Yan Sun 3, 4 , Xinhua Zhang 5 , Yan Chen 6 , Baosheng Zhu 7 , Wangwei Cai 8 , Shaoke Chen 9 , Ren Cai 10 , Xiaoling Guo 11 , Chonglin Zhang 12 , Yuqiu Zhou 13 , Shuodan Huang 14 , Yanhui Liu 15 , Biyan Chen 16 , Shanhuo Yan 17 , Yajun Chen 18 , Hongmei Ding 19 , Xuan Shang 20 , Xiangmin Xu 20 , Jun Sun 1, 2 , Zhiyu Peng 3
Affiliation  

In this study, we performed a spinal muscular atrophy carrier screening investigation with NGS-based method. First, the validation for NGS-based method was implemented in 2255 samples using real-time PCR. The concordance between the NGS-based method and real-time PCR for the detection of SMA carrier and patient were up to 100%. Then, we applied this NGS-based method in 10,585 self-reported normal couples (34 Chinese ethnic groups from 5 provinces in South China) for SMA carrier screening. The overall carrier frequency was 1 in 73.8 (1.4%). It varied substantially between ethnic groups, highest in Dai ethnicity (4.3%), and no significant difference was found between five provinces. One couple was detected as carriers with an elevated risk of having an SMA affected baby. The distribution of SMN1:SMN2 genotype was also revealed in this study. Among the individuals with normal phenotype, the exon 7 copy-number ratio of SMN1 to SMN2 proved the gene conversion between them. With NGS-based method, we investigated SMA carrier status in Chinese population for the first time, and our results demonstrated that it is a promising alternative for SMA carrier screening and could provide data support and reference for future clinical application.

更新日期:2020-09-03
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