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, includi ng parents and siblings) and six healthy Saudi volunteers. The homozyg ous 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 atroph y (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 dele ted in three cases. Three patients with SMA diagnosis did not show eit her of the above deletions. All control Saudi volunteers and all but t wo 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. (C) 1998 Elsevier Science B;V.