Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele

Genetics and Molecular Biology

Angela Polizzi²  Riccardina Tesse²  Teresa Santostasi²  Anna Diana²  Antonio Manca²  Vito Paolo Logrillo²  Maria Domenica Cazzato¹  Maria Giuseppa Pantaleo²  Lucio Armenio² 

[1] ,University of Bari Pediatric Unit S. Maggiore Apulian Referral Center for Cystic FibrosisBari,Italy

关键词: CFTR;    complex allele;    cystic fibrosis;    phenotype;   

DOI  :  10.1590/S1415-47572011000300008

来源: SciELO

【 摘 要 】

Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes.

【 授权许可】

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