Screening of deletions in SMN, NAIP and BTF2p44 genes in Turkish spinal muscular atrophy patients

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 BTF2 p44tel gene indicated the extension of deletion in 13.3% of the cases, main ly in type I patients. Deletions of the NAIP and BTF2p44tel genes were dete cted in 1.3 and 3.9% of carrriers, respectively, in Turkish SMA families, T wo patients were detected to harbor the hybrid SMN gene, one type II with d eletion of the NAIP gene, and one type III without deletion of the NAIP gen e. Copyright (C) 2000 S. Karger AG, Basel.