%0 Journal Article
%T NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.
%A Zhao S
%A Wang W
%A Wang Y
%A Han R
%A Fan C
%A Ni P
%A Guo F
%A Zeng F
%A Yang Q
%A Yang Y
%A Sun Y
%A Zhang X
%A Chen Y
%A Zhu B
%A Cai W
%A Chen S
%A Cai R
%A Guo X
%A Zhang C
%A Zhou Y
%A Huang S
%A Liu Y
%A Chen B
%A Yan S
%A Chen Y
%A Ding H
%A Shang X
%A Xu X
%A Sun J
%A Peng Z
%J Eur J Hum Genet
%V 29
%N 1
%D 01 2021
%M 32884118
%F 5.351
%R 10.1038/s41431-020-00714-8
%X 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.