{Reference Type}: Journal Article
{Title}: NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.
{Author}: Zhao S;Wang W;Wang Y;Han R;Fan C;Ni P;Guo F;Zeng F;Yang Q;Yang Y;Sun Y;Zhang X;Chen Y;Zhu B;Cai W;Chen S;Cai R;Guo X;Zhang C;Zhou Y;Huang S;Liu Y;Chen B;Yan S;Chen Y;Ding H;Shang X;Xu X;Sun J;Peng Z;
{Journal}: Eur J Hum Genet
{Volume}: 29
{Issue}: 1
{Year}: 01 2021
{Factor}: 5.351
{DOI}: 10.1038/s41431-020-00714-8
{Abstract}: 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.