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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
 Yue Wang  ;  Hirokazu Kanegane  ;  Eun-Kyeong Jo  ;  Takeshi Futatani  ;  Chang-Hwa Song  ;  Jeong-Kyu Park  ;  Jung Soo Kim  ;  Dong Soo Kim  ;  Kang-Mo Ahn  ;  Sang-Il Lee  ;  Hyeon Jin Park  ;  Youn Soo Hahn  ;  Jae-Ho Lee  ;  Toshio Miyawaki 
Citation
 JOURNAL OF HUMAN GENETICS, Vol.48(6) : 322-326, 2003 
Journal Title
 JOURNAL OF HUMAN GENETICS 
ISSN
 1434-5161 
Issue Date
2003
MeSH
Agammaglobulinaemia Tyrosine Kinase ; Agammaglobulinemia/enzymology* ; Agammaglobulinemia/genetics* ; Alu Elements ; Base Sequence ; Child ; Child, Preschool ; Chromosomes, Human, X* ; Genetic Linkage ; Humans ; Korea ; Male ; Molecular Sequence Data ; Mutation* ; Protein-Tyrosine Kinases/genetics* ; Tandem Repeat Sequences
Keywords
X-linked agammaglobulinemia ; Bruton's tyrosine kinase ; mutation ; alu repeat recombination ; Korea
Abstract
Mutations in the Bruton's tyrosine kinase ( BTK) gene are responsible for X-linked agammaglobulinemia (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 (IVS7-9A>G). This study suggests that large genomic rearrangements involving Alu repeats are few but an important component of the spectrum of BTK mutations.
Full Text
http://link.springer.com/article/10.1007/s10038-003-0032-4
DOI
10.1007/s10038-003-0032-4
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Dong Soo(김동수)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/114391
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