Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls

• DOI: 10.1186/s12891-015-0457-x
• Publication Date: 2015-02-06T02:07:48Z
• Authors: Ping Fang; Liang Li; Jian Zeng; Wan-Jun Zhou; Wei-Qing Wu; Ze-Yan Zhong; Ti-Zhen Yan; Jian-Sheng Xie; Jing Huang; Li Lin; Ying Zhao; Xiang-Min Xu
• Keywords: SMN1; Gene dosage

Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 NAIP can modify phenotype SMA. The aim this study was to analyze numbers gene structures SMA-related genes in Chinese SMA patients unrelated healthy controls.Forty-two two hundred twelve individuals were enrolled our study. measured MLPA assay.We identified a homozygous deletion exons 7 8 37 42 (88.1%); other 5 (11.9%) had single exon 8. proportions 212 controls with different for normal 1 4 (1.9%), 2 copies 203 (95.7%) 3 (2.4%). Three hybrid SMN five that lack partial sequences found controls. Distributions significantly (P < 0.001) people without SMA.The