Complete genomic organization of the human JAK3 gene and mutation analysisin severe combined immunodeficiency by single-strand conformation polymorphism

Citation
Rf. Schumacher et al., Complete genomic organization of the human JAK3 gene and mutation analysisin severe combined immunodeficiency by single-strand conformation polymorphism, HUM GENET, 106(1), 2000, pp. 73-79
Citations number
50
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
0340-6717 → ACNP
Volume
106
Issue
1
Year of publication
2000
Pages
73 - 79
Database
ISI
SICI code
0340-6717(200001)106:1<73:CGOOTH>2.0.ZU;2-K
Abstract
JAK3 deficiency in humans results in autosomal recessive T-B+ severe combin ed immunodeficiency disease (SCID), a severe immunodeficiency that can only be cured by bone marrow transplantation. We unraveled the complete organiz ation of the human JAK3 gene, which includes 23 exons. This information all owed us to set up a molecular screening test that enabled us to diagnose JA K3 deficiency in 14 patients from 12 unrelated families with T-B+ SCID. In order to define the mutations, we used a nonradioactive single-strand confo rmation polymorphism (SSCP)/heteroduplex (HD) assay based on exon-specific polymerase chain reaction (PCR). In this cohort of patients, 15 independent JAK3 gene mutations have been identified, including 7 that have not been d escribed previously. Mutation analysis information was used for genetic cou nseling and prenatal diagnosis.