期刊
EUROPEAN JOURNAL OF HAEMATOLOGY
卷 95, 期 1, 页码 93-98出版社
WILEY
DOI: 10.1111/ejh.12424
关键词
Wiskott-Aldrich syndrome; WAS gene; InDel; gross deletions
类别
资金
- UD Faculty of Medicine Research Fund
- 'VED-ELEM' project [TAMOP 4.2.2.A-11/1/KONV-2012-0023]
Deletion mutations of WAS are relatively rare and the precise localization of large deletions in the genome has rarely been described in previous studies. We report here a 5-month-old boy with a large deletion mutation inWAS that completely abolished protein expression. To localize the deletion, a 2816-bp-length sequence that spans between exons 9 and 12 was amplified. PCR amplification of the patient's sample revealed a single band of about 1kb in contrast to the 2816-bp-amplicon in the control. Genomic DNA sequencing of the patient revealed a 1595-bp-deletion and an adenine insertion (g.5247_6841del1595insA). This large deletion of WAS resulted in partial loss of exon 10 and intron 11, and a complete loss of intron 10 and exon 11.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据