Home LiteratureArticle Details
PMID: 8380905 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.

Nature ·Vol. 361 ·No. 6409 ·1993-01-21 ·Pages 226-33

Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M

Abstract

X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.

Related Genes
atk src tec yes
MeSH Terms
Agammaglobulinemia/genetics Amino Acid Sequence Base Sequence Chromosome Mapping Female Genes, src Humans Karyotyping Leukemia, Lymphocytic, Chronic, B-Cell/genetics Lymphocytes/physiology Molecular Sequence Data Multigene Family Oligodeoxyribonucleotides Organ Specificity Point Mutation Polymerase Chain Reaction Protein-Tyrosine Kinases/genetics Recombination, Genetic Saccharomyces cerevisiae/genetics Sequence Homology, Amino Acid Transcription, Genetic X Chromosome alpha-Galactosidase/genetics
Chemicals
Oligodeoxyribonucleotides Protein-Tyrosine Kinases alpha-Galactosidase
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Vetrie D
Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
Vorechovský I
Sideras P
Holland J
Davies A
Flinter F
Hammarström L
Kinnon C
Levinsky R
Bobrow M
Article Info
Journal
Nature
Abbr.
Nature
ISSN
0028-0836
DOI
10.1038/361226a0
Published
1993-01-21
Pages
226-33
Language
English
Region
England
NLM ID
0410462
Subset
IM
Grants
Wellcome Trust · United Kingdom
Corrections
ErratumIn
-
CommentIn
PMID: 7678697
CommentIn
PMID: 8510749
External Links
PubMed source DOI: 10.1038/361226a0 View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2