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Journal of Zhejiang University SCIENCE B 2009 Vol.10 No.1 P.29~34

10.1631/jzus.B0820125


Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy


Author(s):  Yu-hua LIANG, Xiao-ling CHEN, Zhong-sheng YU, Chun-yue CHEN, Sheng BI, Lian-gen MAO, Bo-lin ZHOU, Xian-ning ZHANG

Affiliation(s):  Department of Bioscience, Bengbu Medical College, Bengbu 233000, China; more

Corresponding email(s):   zhangxianning@zju.edu.cn

Key Words:  Spinal muscular atrophy (SMA), Survival motor neuron (SMN) gene, Neuronal apoptosis inhibitory protein (NAIP) gene, Mutation


Yu-hua LIANG, Xiao-ling CHEN, Zhong-sheng YU, Chun-yue CHEN, Sheng BI, Lian-gen MAO, Bo-lin ZHOU, Xian-ning ZHANG. Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy[J]. Journal of Zhejiang University Science B, 2009, 10(1): 29~34.

@article{title="Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy",
author="Yu-hua LIANG, Xiao-ling CHEN, Zhong-sheng YU, Chun-yue CHEN, Sheng BI, Lian-gen MAO, Bo-lin ZHOU, Xian-ning ZHANG",
journal="Journal of Zhejiang University Science B",
volume="10",
number="1",
pages="29~34",
year="2009",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B0820125"
}

%0 Journal Article
%T Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy
%A Yu-hua LIANG
%A Xiao-ling CHEN
%A Zhong-sheng YU
%A Chun-yue CHEN
%A Sheng BI
%A Lian-gen MAO
%A Bo-lin ZHOU
%A Xian-ning ZHANG
%J Journal of Zhejiang University SCIENCE B
%V 10
%N 1
%P 29~34
%@ 1673-1581
%D 2009
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B0820125

TY - JOUR
T1 - Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy
A1 - Yu-hua LIANG
A1 - Xiao-ling CHEN
A1 - Zhong-sheng YU
A1 - Chun-yue CHEN
A1 - Sheng BI
A1 - Lian-gen MAO
A1 - Bo-lin ZHOU
A1 - Xian-ning ZHANG
J0 - Journal of Zhejiang University Science B
VL - 10
IS - 1
SP - 29
EP - 34
%@ 1673-1581
Y1 - 2009
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B0820125


Abstract: 
spinal muscular atrophy (SMA) is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. Three types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: SMA1, SMA2, and SMA3. The survival of motor neuron (SMN) gene has been identified as an SMA determining gene, whereas the neuronal apoptosis inhibitory protein (NAIP) gene is considered to be a modifying factor of the severity of SMA. The main objective of this study was to analyze the deletion of SMN1 and NAIP genes in southern Chinese children with SMA. Here, polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was performed to detect the deletion of both exon 7 and exon 8 of SMN1 and exon 5 of NAIP in 62 southern Chinese children with strongly suspected clinical symptoms of SMA. All the 32 SMA1 patients and 76% (13/17) of SMA2 patients showed homozygous deletions for exon 7 and exon 8, and all the 13 SMA3 patients showed single deletion of SMN1 exon 7 along with 24% (4/17) of SMA2 patients. Eleven out of 32 (34%) SMA1 patients showed NAIP deletion, and none of SMA2 and SMA3 patients was found to have NAIP deletion. The findings of homozygous deletions of exon 7 and/or exon 8 of SMN1 gene confirmed the diagnosis of SMA, and suggested that the deletion of SMN1 exon 7 is a major cause of SMA in southern Chinese children, and that the NAIP gene may be a modifying factor for disease severity of SMA1. The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis and preimplantation genetic diagnosis of SMA.

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article

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