NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study

被引：21

作者：

Zhao, Sumin ^{[1
,2
]}

Wang, Wanyang ^{[1
,2
]}

Wang, Yaoshen ^{[1
,2
]}

Han, Rui ^{[1
,2
]}

Fan, Chunna ^{[1
,2
]}

Ni, Peixiang ^{[1
,2
]}

Guo, Fengyu ^{[1
,2
]}

Zeng, Fanwei ^{[3
]}

Yang, Qiaona ^{[3
]}

Yang, Yun ^{[3
]}

Sun, Yan ^{[3
,4
]}

Zhang, Xinhua ^{[5
]}

Chen, Yan ^{[6
]}

Zhu, Baosheng ^{[7
]}

Cai, Wangwei ^{[8
]}

Chen, Shaoke ^{[9
]}

Cai, Ren ^{[10
]}

Guo, Xiaoling ^{[11
]}

Zhang, Chonglin ^{[12
]}

Zhou, Yuqiu ^{[13
]}

Huang, Shuodan ^{[14
]}

Liu, Yanhui ^{[15
]}

Chen, Biyan ^{[16
]}

Yan, Shanhuo ^{[17
]}

Chen, Yajun ^{[18
]}

Ding, Hongmei ^{[19
]}

Shang, Xuan ^{[20
]}

Xu, Xiangmin ^{[20
]}

Sun, Jun ^{[1
,2
]}

Peng, Zhiyu ^{[3
]}

机构：

[1] BGI Shenzhen, BGI Tianjin, Tianjin Med Lab, Tianjin 300308, Peoples R China

[2] BGI Shenzhen, Binhai Genom Inst, BGI Tianjin, Tianjin 300308, Peoples R China

[3] BGI Shenzhen, BGI Genom, Shenzhen 518083, Peoples R China

[4] James D Watson Inst Genome Sci, Hangzhou 310008, Peoples R China

[5] Peoples Liberat Army, Dept Hematol, Hosp 303, Nanning, Guangxi, Peoples R China

[6] Zunyi Med Coll, Affiliated Hosp, Dept Pediat 2, Zunyi, Guizhou, Peoples R China

[7] Kunming Univ Sci & Technol, Peoples Hosp Yunnan Prov 1, Key Lab Preconcept & Hlth Birth Western China, Nat Hlth & Family Planning Commiss, Kunming, Yunnan, Peoples R China

[8] Hainan Med Coll, Dept Biochem & Mol Biol, Haikou, Hainan, Peoples R China

[9] Guangxi Zhuang Autonomous Reg Women & Children Hl, Dept Genet & Metab Lab, Nanning, Guangxi, Peoples R China

[10] Liuzhou Municipal Matern & Child Healthcare Hosp, Dept Med Genet, Liuzhou, Guangxi, Peoples R China

[11] Matern & Child Hlth Care Hosp Foshan City, Foshan, Guangdong, Peoples R China

[12] Guilin Women & Children Hlth Care Hosp, Guilin, Guangxi, Peoples R China

[13] Zhuhai Municipal Maternal & Child Healthcare Hosp, Zhuhai Inst Med Genet, Dept Clin Lab, Zhuhai, Guangdong, Peoples R China

[14] Maternal & Child Hlth Hosp Meizhou, Meizhou, Guangdong, Peoples R China

[15] Dong Guan Maternal & Child Hlth Hosp, Dept Prenatal Diag Ctr, Dongguan, Guangdong, Peoples R China

[16] Baise Women & Children Care Hosp, Baise, Guangxi, Peoples R China

[17] Qinzhou Maternal & Child Hlth Hosp, Genet Lab, Qingzhou, Guangxi, Peoples R China

[18] Women & Childrens Hlth Hosp Shaoguan, Shaoguan, Guangdong, Peoples R China

[19] Peoples Hosp Yunfu City, Dept Gynecol & Obstet, Yunfu, Guangdong, Peoples R China

[20] Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2021年 / 29卷 / 01期

关键词：

COPY-NUMBER; NEXT-GENERATION; SMN1; SMA; IDENTIFICATION; GENES; SEQUENCE; PROTEIN; REGION; ALLELE;

D O I：

10.1038/s41431-020-00714-8

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：194 / 204

页数：11

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