[Study of NAIP gene in spinal muscular atrophy]
OBJECTIVE: Investigating the correlation between the genotype and spinal muscular atrophy(SMA) clinical phenotype. METHODS: Neuronal apoptosis inhibitory protein(NAIP) gene analysis was performed by PCR amplification of exon 5 in 13 unrelated SMA patients with deletions of SMN gene. RESULTS: Two Type-I patients(2/5, 40%) lacked the NAIP exon 5. CONCLUSION: The results suggest a possible correlation between NAIP gene deletion and the disease severity of SMA.
Ma
H
The Second Hospital, China Medical University, Shenyang, 110003, P. R. China. cmu2hosp@iris.cmu.edu.cn
Wang
Y
Mi
Z
Wu
Y
Zhao
P
Zhao
S
Jiang
M
Li
Y