[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 M5, 40%) lacked the NAIP exon 5.


CONCLUSIONS
The results suggest a possible correlation between NAIP gene deletion and the disease severity of SMA.
Ma
H
H
The Second Hospital, China Medical University, Shenyang, 110003, P. R. China. cmu2hosp@iris.cmu.edu.cn
Wang
Y
Y
Mi
Z
Z
Wu
Y
Y
Zhao
P
P
Zhao
S
S
Jiang
M
M
Li
Y
Y
D002648:Child; D017353:Gene Deletion; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein; D016133:Polymerase Chain Reaction; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*
C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein