[A study of survival motor neuron and neuronal apoptosis inhibitory protein gene in spinal muscular atrophy].
OBJECTIVE
To study the absence of survival motor neuron(SMN) gene exon 7,8 and neuronal apoptosis inhibitory protein(NAIP) gene exon 5,6 in Chinese patients with type I - IV spinal muscular atrophy (SMA) and to confirm the relationship between the deletions of SMN, NAIP and SMA phenotype.


METHODS
PCR and PCR-enzyme methods were used to detect the deletions of NAIP gene exon 5,6 and SMN gene exon 7,8 in 45 SMA (I - IV) patients and 30 healthy relatives of the patients and 30 normal controls.


RESULTS
Deletions of exon 7 and 8 of the telomeric SMN gene were 4/4, 2/3, 1/8 and 0/30 in type I, II, III and IV SMA patients, respectively. One patient with type II lacked the exon 7 but retained exon 8. No deletions was found in the relatives and controls(0/60). No deletions of exon 5 and 6 of the NAIP gene was detected in all the patients, healthy relatives and controls.


CONCLUSIONS
Deletions of SMN gene exon 7 and 8 exa mined by PCR-enzyme digestion could be recommended as an accurate gene diagnostic method for SMA with type I and II. However, the method was not as useful in type III as in I and II for making a diagnosis of SMA. Type IV SMA, a heterogeneous disease with phenotypical similarities to type I - III SMA, may be caused by deletion of other genes. The frequency of NAIP deletion was lower in Chinese SMA patients.
Zhang
L
L
Department of Neurology, Xiangya Hospital, Hunan Medical University, Changsha 410008, China.
Yang
X
X
Xiao
B
B
D002648:Child; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics*; D055532:SMN Complex Proteins
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins