title: Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients.
abstract: Deletions of the spinal muscular atrophy (SMA)-determining gene, SMN1, NAIP, and a third multicopy gene, BTF2p44tel were investigated in 60 unrelated Turkish SMA patients. SMN1 was deleted for at least exons 7 and 8 in 85% of the Turkish SMA patients. The NAIP gene was deleted in 75 and 33% of type I and type II SMA patients, respectively. Analysis of the 5'end of the BTF2p44tel gene indicated the extension of deletion in 13.3% of the cases, mainly in type I patients. Deletions of the NAIP and BTF2p44tel genes were detected in 1.3 and 3.9% of carrriers, respectively, in Turkish SMA families. Two patients were detected to harbor the hybrid SMN gene, one type II with deletion of the NAIP gene, and one type III without deletion of the NAIP gene.
authors.affiliation: Department of Molecular Biology, Bogazici University, Bebek, Istanbul, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Savas
authors.forename: N
authors.initials: N
authors.lastname: Gokgoz
authors.forename: H
authors.initials: H
authors.lastname: Kayserili
authors.forename: F
authors.initials: F
authors.lastname: Ozkinay
authors.forename: M
authors.initials: M
authors.lastname: Yuksel-Apak
authors.forename: B
authors.initials: B
authors.lastname: Kirdar
mesh_terms: D002895:Chromosomes, Human, Pair 5; D017362:Cyclic AMP Response Element-Binding Protein; D005091:Exons; D017353:Gene Deletion; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008957:Models, Genetic; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein; D010641:Phenotype; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein; D014421:Turkey
chemical_list: 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; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein