title: Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.
abstract: BACKGROUND
  Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA. The aim of this study was to analyze the copy numbers and gene structures of SMA-related genes in Chinese SMA patients and unrelated healthy controls.
  
  
  METHODS
  Forty-two Chinese SMA patients and two hundred and twelve unrelated healthy Chinese individuals were enrolled in our study. The copy numbers and gene structures of SMA-related genes were measured by MLPA assay.
  
  
  RESULTS
  We identified a homozygous deletion of SMN1 in exons 7 and 8 in 37 of 42 patients (88.1%); the other 5 SMA patients (11.9%) had a single copy of SMN1 exon 8. The proportions of the 212 unrelated healthy controls with different copy numbers for the normal SMN1 gene were 1 copy in 4 individuals (1.9%), 2 copies in 203 (95.7%) and 3 copies in 5 (2.4%). Three hybrid SMN genes and five genes that lack partial sequences were found in SMA patients and healthy controls. Distributions of copy numbers for normal SMN2 and NAIP were significantly different (P < 0.001) in people with and without SMA.
  
  
  CONCLUSIONS
  The copy numbers and gene structures of SMA-related genes were different in Chinese SMA patients and healthy controls.
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Avenue North1838, Guangzhou, Guangdong, People's Republic of China. 1065370927@qq.com.
authors.forename: Ping
authors.initials: P
authors.lastname: Fang
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Avenue North1838, Guangzhou, Guangdong, People's Republic of China. liliang@smu.edu.cn.
authors.forename: Liang
authors.initials: L
authors.lastname: Li
authors.affiliation: Department of Clinical Laboratory, The Fuzhou General Hospital, Nanjing Military Command, Fuzhou, Fujian, People's Republic of China. zengjian1980222@163.com.
authors.forename: Jian
authors.initials: J
authors.lastname: Zeng
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Avenue North1838, Guangzhou, Guangdong, People's Republic of China. zhouwanjun72@163.com.
authors.forename: Wan-Jun
authors.initials: WJ
authors.lastname: Zhou
authors.affiliation: Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, People's Republic of China. rainwwq@163.com.
authors.forename: Wei-Qing
authors.initials: WQ
authors.lastname: Wu
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Avenue North1838, Guangzhou, Guangdong, People's Republic of China. yan_16@126.com.
authors.forename: Ze-Yan
authors.initials: ZY
authors.lastname: Zhong
authors.affiliation: Liuzhou Key Laboratory of birth defects prevention and control, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, People's Republic of China. yantizhen@sohu.com.
authors.forename: Ti-Zhen
authors.initials: TZ
authors.lastname: Yan
authors.affiliation: Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, People's Republic of China. jianshengxie2000@aliyun.com.
authors.forename: Jian-Sheng
authors.initials: JS
authors.lastname: Xie
authors.affiliation: The Third Affiliated Hospital of Southern Medical University, Guangzhou, Guangdong, People's Republic of China. 337024342@qq.com.
authors.forename: Jing
authors.initials: J
authors.lastname: Huang
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Avenue North1838, Guangzhou, Guangdong, People's Republic of China. echo63310394@hotmail.com.
authors.forename: Li
authors.initials: L
authors.lastname: Lin
authors.affiliation: Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, Guangdong, People's Republic of China. jiowing@126.com.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Avenue North1838, Guangzhou, Guangdong, People's Republic of China. gzxuxm@pub.guangzhou.gd.cn.
authors.forename: Xiang-Min
authors.initials: XM
authors.lastname: Xu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D056915:DNA Copy Number Variations; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: C496800:NAIP protein, human; D051616:Neuronal Apoptosis-Inhibitory Protein; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein