Molecular analysis of Bruton’s tyrosine kinase gene in Spain

Autor:	Ma Cruz García Rodríguez, Antonio Ferreira Cerdán, Gumersindo Fontán Casariego, Eduardo López Granados
Rok vydání:	2001
Předmět:	Genetics Mutation biology Point mutation X-linked agammaglobulinemia Single-strand conformation polymorphism medicine.disease_cause medicine.disease Phenotype Molecular biology hemic and lymphatic diseases biology.protein medicine Missense mutation Bruton's tyrosine kinase Gene Genetics (clinical)
Zdroj:	Human Mutation. 18:84-84
ISSN:	1059-7794
Popis:	Mutations in Bruton’s tyrosine kinase (BTK) gene result in X linked agammaglobulinemia (XLA). Using Single Strand Conformation Polymorphism (SSCP) followed by direct sequencing 21 mutations were found in 27 patients with an XLA phenotype from 21 unrelated families. We identified 13 novel and 8 known mutations: seven missense (R288W, R544G, P566S, K430E; K374N, L512P, R544S), 5 nonsense (Q196X, Y361X, L249X, Q612X, Q466X), 2 deletions of one nucleotide (A207fsX216, Q612fsX648), 2 deletion-insertions (V219fsX227, K218fsX228), one insertion of two nucleotides (S572fsX587) and 4 point mutations in donor/acceptor splice sites (g.IVS1+1G>C, g.IVS6+5G>A, g.IVS10+1G>T, g.IVS13-1GG>CT). Carrier detection was performed in 18 mothers. Only in one case the mutation was found to be de novo. Additionally, BTK mutations were not found in four patients without family history, but with XLA-compatible phenotype. Hum Mutat 18:84, 2001. © 2001 Wiley-Liss, Inc.
Databáze:	OpenAIRE
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