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Titolo:
Prenatal diagnosis of JAK3 deficient SCID
Autore:
Schumacher, RF; Mella, P; Lalatta, F; Fiorini, M; Giliani, S; Villa, A; Candotti, F; Notarangelo, LD;
Indirizzi:
Univ Brescia, Dept Paediat, I-25123 Brescia, Italy Univ Brescia Brescia Italy I-25123 Dept Paediat, I-25123 Brescia, Italy Univ Brescia, Dept Chem, Brescia, Italy Univ Brescia Brescia ItalyUniv Brescia, Dept Chem, Brescia, Italy ICP, Lab Citogenet, Milan, Italy ICP Milan ItalyICP, Lab Citogenet, Milan, Italy CNR, Ist Tecnol Biomed Avanzate, I-20131 Milan, Italy CNR Milan Italy I-20131 Ist Tecnol Biomed Avanzate, I-20131 Milan, Italy
Titolo Testata:
PRENATAL DIAGNOSIS
fascicolo: 7, volume: 19, anno: 1999,
pagine: 653 - 656
SICI:
0197-3851(199907)19:7<653:PDOJDS>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
SEVERE COMBINED IMMUNODEFICIENCY; BONE-MARROW TRANSPLANTATION; RECEPTOR-GAMMA-CHAIN; IN-UTERO TRANSPLANTATION; INTERLEUKIN-2; MUTATIONS; AMNIOCENTESIS; ORGANIZATION; PATIENT; CELLS;
Keywords:
CVS; SSCP/HD; T-B plus SCID; non-radioactive; mutation analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Schumacher, RF Univ Brescia, Dept Paediat, Piazzale Spedali Civili, I-25123 Brescia, Italy Univ Brescia Piazzale Spedali Civili Brescia Italy I-25123
Citazione:
R.F. Schumacher et al., "Prenatal diagnosis of JAK3 deficient SCID", PRENAT DIAG, 19(7), 1999, pp. 653-656

Abstract

The JAK3 gene, encoding a tyrosine kinase functionally coupled to cytokinereceptors which share the common gamma chain, has been identified as the defective gene for autosomal recessive severe combined immunodeficiency (SCID). Thus, specific mutational diagnosis has become possible. We screened all exons with a combined single strand conformational polymorphism and hetero-duplex formation assay followed by sequence analysis to identify specificmutations in two families. This assay was used on chorionic villus sampling derived DNA in two fetuses from two unrelated families, where we found mutations in both parents. We were able to exclude the mutations in both fetuses by the 12th week of gestation. The described method for first-trimesterprenatal diagnosis of autosomal recessive T-B+SCID provides a valid tool to aid in genetic counselling and possibly prenatal therapy in this disease. Copyright (C) 1999 John Wiley & Sons, Ltd.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 21:51:39