Profiling of XXXX mutations in Korean @entity447 .

@entity2801 @entity1 @entity74 @entity447
@entity447 ( @entity447 ) is an X chromosome-linked @entity74 caused by heterogeneous mutations of @entity2801 ( @entity2801 ). Although more than 900 mutations of @entity2801 gene are reported in the HAMSTeRS database, the mutation data regarding the @entity2801 gene in the Korean population is currently insufficient. The aim of this study was to profile the mutations of @entity2801 in Korean @entity447 , 38 unrelated Korean @entity447 male @entity1 were examined. Peripheral blood samples were obtained from the @entity1 . Long distance-PCR was performed for the identification of inversions in intron 22 and intron 1. Then gross exon deletion was examined to the inversion-negative @entity1 by multiplex-PCR. Finally, direct sequencing was performed on exons 1-26, 5'- and 3'-UTR. We identified 33 mutations from the 38 @entity1 . These included 15 inversions in intron 22 (39.5%), one inversion in intron 1 (2.6%), one gross exon deletion (2.6%), five deletions (13.2%), two insertions (5.3%), six missense (15.8%) and three nonsense mutations (7.9%). Mutation types for five @entity1 (13.2%) were not identified in this study. We determined that the most common defect in @entity2801 in this study was an inversion mutation in intron 22; this is consistent with the findings of other studies. For the first time in Korean @entity447 , a @entity1 with intron 1 inversion was found. In addition, we report eight novel mutation types which never been reported in HAMSTeRS database. The mutation data in this study should prove useful as a reference for the diagnosis of @entity447 and the detection of carriers in the Korean population.
