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- Title
Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients.
- Authors
Jo, Eun-Kyeong; Wang, Yue; Kanegane, Hirokazu; Futatani, Takeshi; Song, Chang-Hwa; Park, Jeong-Kyu; Kim, Jung Soo; Kim, Dong Soo; Ahn, Kang-Mo; Lee, Sang-Il; Park, Hyeon Jin; Hahn, Youn Soo; Lee, Jae-Ho; Miyawaki, Toshio
- Abstract
Mutations in the Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglob-ulinemia (XLA). We identified BTK mutations in six patients with presumed XLA from unrelated Korean families. Four out of six mutations were novel: two missense mutations (P565T, C154Y), a point mutation in a splicing donor site (IVS11+1G > A), and a large deletion (a 6.1-kb deletion including BTK exons 11-18). The large deletion, identified by long-distance PCR, revealed Alu-Alu mediated recombination extended from an Alu sequence in intron 10 to another Alu sequence in intron 18, spanning a distance of 6.1 kb. The two known mutations consisted of one missense (G462D) mutation, and a point mutation in a splicing acceptor site (IV-S7-9A>G). This study suggests that large genomic rearrangements involving Alu repeats are few but an important component of the spectrum of BTK mutations.
- Subjects
KOREA; PROTEIN-tyrosine kinases; AMINO acids; GENETICS; FAMILIES
- Publication
Journal of Human Genetics, 2003, Vol 48, Issue 6, p322
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s10038-003-0032-4