| Identification of a Novel Mutation of Bruton`s Tyrosine Kinase(BTK) Gene in a X-linked Agammaglobulinemia(XLA) Family |
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Young-Jong Baek1, Jae-Ho Lee1, Jung-Soo Kim2, Chang-Hwa Song3, Jeong-Kyu Park3, Hwa-Jung Kim3, Eun-Kyeong Jo3 |
1Department of Pediatrics, College of Medicine, Chungnam National University, Daejon. Korea
2Department of Pediatrics, College of Medicine, Chunbuk National University, Chunbok.
3Department of Microbiology, College of Medicine, Chungnam National University, Daejon, Korea |
| X-linked XLA 환자 가족의 Bruton`s Tyrosine Kinase 유전자 변이 분석 |
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백영종1, 이재호1, 김정수2, 송창화3, 박정규3, 김화중3, 조은경3 |
1충남대학교 의과대학 소아과학교실
2전북대학교 의과대학 소아과학교실
3충남대학교 의과대학 미생물학교실 |
Correspondence:
Jae-Ho Lee, Email: immlee@hanbat.chungnam.ac.kr
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| Abstract |
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X-linked agammaglobulinemia(XLA) is a heritable humoral immunodeficiency disease characterized by inefficient expansion of pre-B cells into later B cell stages or incomplete differentiation of B cell precursors to pre-B cells. The gene mutated in XLA was identified as a cytoplasmic tyrosine kinase, named Bruton`s tyrosine kinase(BTK). In this report we investigated the characteristics of immune cells, the patterns of intracellular BTK protein expression by flow cytometry, and the genetic abnormality by direct sequencing in one Korean XLA family. Finally, we found that the serum immunoglobulins and the number of peripheral B cells were extremly low in the patient and his brother. The histogram of intracellular BTK staining in the patient and his brother showed typical case of XLA, whereas that of their mother showed a carrier pattern. We also identified a novel point mutation in the first intron of the BTK gene in the patient and his brother. The genomic DNA sequencing of mother and sister showed a G/A heterozygote pattern. These results will provide valuable clues to the pathogenesis of XLA, and suggest an approach useful for carrier detection. |
| Key Words:
Bruton`s tyrosine kinase X-linked agammaglobulinemia |
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