- 作者: M.Z. Haider A. Moosa H. Dalal Y. Habib L.Reynold
- 作者服務機構: Paediatrics Departments, Faculty of Medicine, Kuwait University and Mubarak Al=Kabeer Hospital, Safat, Kuwait; University of Cape Town, South Africa
- 中文摘要: --
- 英文摘要: Spinal muscular atrophy (SMA) is an autosomal reces-sive disorder characterized by degeneration of lowermotor neurons. We have assayed deletions in two candi-date genes, the survival motor neuron (SMN) and neu-ronal apoptosis inhibitory protein (NAIP) genes, in 108samples, of which 46 were from SMA patients, and 62were from unaffected subjects. The SMA patients in-cluded 3 from Bahrain, 9 from South Africa, 2 from India, 5 from Oman, 1 from Saudi Arabia, and 26 from Kuwait.SMN gene exons 7 and 8 were deleted in all type I SMApatients. NAIP gene exons 5 and 6 were deleted in 22 of23 type I SMA patients. SMN gene exon 7 was deleted inall type II SMA patients while exon 8 was deleted in 19 of21 type II patients. In 1 type II SMA patient, both centro-meric and telomeric copies of SMN exon 8 were deleted. NAIP gene exons 5 and 6 were deleted in only 1 type IISMA patient. In 1 of the 2 type III SMA patients, SMNgene exons 7 and 8 were deleted with no deletion in theNAIP gene, while in the second patient, deletions weredetected in both SMN and NAIP genes. None of the 62unaffected subjects had deletions in either the SMN orNAIP gene. The incidence of biallelic polymorphism inSMN gene exon 7 (8smAl) was found to be similar (97%)to that (98%) reported in a Spanish population but wassignificantly different from that reported from Taiwan(0%). The incidence of a second polymorphism in SMNgene exon 8 (presence of the sequence ATGGCCT) wasmarkedly different in our population (97%) and thosereported from Spain (50%) and Taiwan (0%).
- 中文關鍵字: --
- 英文關鍵字: Deletion. NAIP gene. Polymerase chain reaction. Spinal muscular atrophy. SMN gene