TY - JOUR
T1 - Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
AU - Schumacher, Richard F.
AU - Mella, Patrizia
AU - Badolato, Raffaele
AU - Fiorini, Maurilia
AU - Savoldi, Gianfranco
AU - Giliani, Silvia
AU - Villa, Anna
AU - Candotti, Fabio
AU - Tampalini, Andrea
AU - O'Shea, John J.
AU - Notarangelo, Luigi D.
PY - 2000
Y1 - 2000
N2 - JAK3 deficiency in humans results in autosomal recessive T-B+ severe combined immunodeficiency disease (SCID), a severe immunodeficiency that can only be cured by bone marrow transplantation. We unraveled the complete organization of the human JAK3 gene, which includes 23 exons. This information allowed us to set up a molecular screening test that enabled us to diagnose JAK3 deficiency in 14 patients from 12 unrelated families with T-B+ SCID. In order to define the mutations, we used a nonradioactive single-strand conformation 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 described previously. Mutation analysis information was used for genetic counseling and prenatal diagnosis.
AB - JAK3 deficiency in humans results in autosomal recessive T-B+ severe combined immunodeficiency disease (SCID), a severe immunodeficiency that can only be cured by bone marrow transplantation. We unraveled the complete organization of the human JAK3 gene, which includes 23 exons. This information allowed us to set up a molecular screening test that enabled us to diagnose JAK3 deficiency in 14 patients from 12 unrelated families with T-B+ SCID. In order to define the mutations, we used a nonradioactive single-strand conformation 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 described previously. Mutation analysis information was used for genetic counseling and prenatal diagnosis.
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U2 - 10.1007/s004390051012
DO - 10.1007/s004390051012
M3 - Article
C2 - 10982185
AN - SCOPUS:0034021778
VL - 106
SP - 73
EP - 79
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 1
ER -