Mutation analysis of the gene encoding Bruton`s tyrosine kinase in a family with a sporadic case of X-linked agammaglobulinemia reveals three female carriers
- Rush Medical School, Chicago, IL (United States)
- Children`s Hospital Medical Center, Cincinnati, OH (United States)
Bruton`s tyrosine kinase (Btk) has been identified as the protein responsible for the primary immunodeficiency X-linked agammaglobulinemia (XLA). We and others have cloned the gene for Btk and recently reported the genomic organization. Nineteen exons were positioned within the 37 kb gene. With the sequence data derived from our genomic map, we have designed a PCR based assay to directly identify mutations of the Btk gene in germline DNA of patients with XLA. In this report, the assay was used to analyze a family with a sporadic case of XLA to determine if other female relatives carry the disease. A four base-pair deletion was found in the DNA of the affected boy and was further traced through three generations. With the direct identification of the mutations responsible for XLA, we can now diagnose conclusively the disease and identify the immunologically normal female carriers. This same technique can easily be applied to prenatal diagnosis in families where the mutation can be identified. 34 refs., 3 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 443808
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
AMINO ACIDS
BIOLOGICAL MARKERS
DIAGNOSIS
DNA SEQUENCING
DNA-CLONING
GENE MUTATIONS
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
IMMUNE SYSTEM DISEASES
PATIENTS
PHOSPHOTRANSFERASES
POLYMERASE CHAIN REACTION
RECESSIVE MUTATIONS
SCREENING
STATISTICS
STRUCTURE-ACTIVITY RELATIONSHIPS
TYROSINE