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

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机构： [1]Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen,300308 Tianjin, China [2]Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen,300308 Tianjin, China [3]BGI Genomics, BGI-Shenzhen, 518083 Shenzhen, China [4]James D. Watson Institute of Genome Science,310008 Hangzhou, China [5]Department of Hematology, 303rd Hospital of the People’sLiberation Army, Nanning, Guangxi, China [6]The Second Department of Pediatrics, Affiliated Hospital of ZunyiMedical College, Zunyi, Guizhou, China [7]Nation Health and Family Planning Commission Key LaboratoryFor Preconception and Health Birth in Western China, The FirstPeople’s Hospital of Yunnan Province, Kunming University ofScience and Technology, Kunming, China [8]Department of Biochemistry and Molecular Biology,Hainan Medical College, Haikou, Hainan, China [9]Department of Genetic and Metabolic Laboratory, GuangxiZhuang Autonomous Region Women and Children Health CareHospital, Nanning, Guangxi, China [10]Department of Medical Genetics, Liuzhou Municipal Maternityand Child Healthcare Hospital, Liuzhou, Guangxi, China [11]Maternity and Child Health Care Hospital of Foshan City,Foshan, Guangdong, China [12]Guilin Women and Children Health Care Hospital,Guilin, Guangxi, China [13]Department of Clinical Laboratory, Zhuhai Municipal Maternaland Child Healthcare Hospital, Zhuhai Institute of MedicalGenetics, Zhuhai, Guangdong, China [14]Maternal and Child Health Hospital in Meizhou,Meizhou, Guangdong, China [15]Department of Prenatal Diagnosis Center, Dong Guan Maternaland Child Health Hospital, Dongguan, Guangdong, China [16]Baise Women and Children Care Hospital, Baise, Guangxi, China [17]Genetic Laboratory, Qinzhou Maternal and Child Health Hospital,Qingzhou, Guangxi, China [18]Women and Children’s Health Hospital of Shaoguan,Shaoguan, Guangdong, China [19]Department of Gynecology and Obstetrics, The People’s Hospitalof Yunfu City, Yunfu, Guangdong, China [20]Department of Medical Genetics, School of Basic MedicalSciences, Southern Medical University, Guangzhou,510515 Guangdong, China

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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. © 2020, The Author(s), under exclusive licence to European Society of Human Genetics.

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出版当年[2021]版：

大类 | 3 区生物

小类 | 3 区生化与分子生物学 3 区遗传学

最新[2023]版：

大类 | 2 区生物学

小类 | 2 区生化与分子生物学 2 区遗传学

第一作者：

第一作者机构： [1]Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen,300308 Tianjin, China [2]Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen,300308 Tianjin, China

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通讯机构： [1]Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen,300308 Tianjin, China [2]Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen,300308 Tianjin, China

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