Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients.
In this study we examined the deletion of the SMN and NAIP genes in 14 Saudi families (16 patients and 38 relatives of the patients, including parents and siblings) and six healthy Saudi volunteers. The homozygous deletions of exons 7 and 8 of the telomeric SMN gene and exon 5 of the NAIP gene were found in seven out of eight spinal muscular atrophy (SMA) type-I patients. In seven SMA type-II patients, exons 7 and 8 of telomeric SMN were deleted in six cases and exon 5 of NAIP was deleted in three cases. Three patients with SMA diagnosis did not show either of the above deletions. All control Saudi volunteers and all but two family members of the patients had both normal SMN and NAIP genes. Our results show that the incidence of NAIP deletion is higher in the more severe SMA cases and the dual deletions of the SMN and NAIP genes are more common in Saudi SMA type-I patients compared to patients of other ethnic groups.
Neurogenetics Laboratory, King Fahad National Guard Hospital, Medical Research Centre, Riyadh, Saudi Arabia.
S
S
Al Rajeh
R
R
Majumdar
A
A
Awada
A
A
Adeyokunnu
M
M
Al Jumah
M
M
Al Bunyan
A
A
Snellen
D018912:Arabs / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics* / Q000648:ultrastructure; D003241:Consanguinity; D017362:Cyclic AMP Response Element-Binding Protein; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D012529:Saudi Arabia / Q000453:epidemiology; D017384:Sequence Deletion; D016615:Telomere / 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