[Survival motor neuron gene and neuronal apoptosis inhibitory protein gene deletion in patients with spinal muscular atrophy].
OBJECTIVE
To investigate the frequencies of gene deletion survival motor neuron telomere (SMNTel) exon 7 and neuronal apoptosis inhibitory protein gene (NAIP) exon 5 in 55 Chinese spinal muscular atrophy (SMA) patients, and compare the relationship between these two candidate genes and the disease.


METHODS
PCR-SSCP method was used to detect the deletion of SMNTel exon 7, direct visualization of PCR products by agarose electrophoresis was used to detect the deletion of NAIP exon 5 in 55 SMA patients with type I and type II. 40 normal individuals were involved in the study as controls.


RESULTS
Homozygous deletion of the SMNTel exon 7 was identified in 92% (23/25) of SMA type I patients and 90% (27/30) of SMA type II patients. The same deletion was found in two mothers and one father of SMA patients. There was no homozygous deletion found in normal controls. None of the homozygous deletion of NAIP exon 5 was found in 55 SMA patients and normal controls. Only two patients were found to have the heterozygous deletion.


CONCLUSIONS
The frequency of homozygous deletion of SMNTel exon 7 was 90.1%. Our data support that SMN gene is strongly associated with SMA.
Ma
S
S
Department of Medical Genetics, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China.
Yuan
L
L
Liu
T
T
Yang
T
T
Zhou
W
W
Wu
H
H
D000328:Adult; D002648:Child; D017362:Cyclic AMP Response Element-Binding Protein; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*
D017362:Cyclic AMP Response Element-Binding Protein; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins