Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele
نویسندگان
چکیده
منابع مشابه
Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele
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-p...
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Cystic fibrosis (CF) is the most common autosomal recessive genetic disease, which is caused by defection in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR gene codes chloride channels to modulate the homeostasis of epithelial environments. Defective CFTR affects various organs such as the lungs, pancreas, intestine, liver and skin; however, lung impairment is the mai...
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BACKGROUND Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS A prospective cohort of adult patients wi...
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Background: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). Methods: A prospective cohort of adult patients wi...
متن کاملGenotype-phenotype relationship in Iranian patients with cystic fibrosis.
BACKGROUND/AIMS Cystic fibrosis (CF), the most common hereditary, life-threatening disease, is caused by a mutation in the CFTR gene. Because different mutations can affect clinical manifestations of patients, this study was conducted to investigate the possible genotype-phenotype relationship in a group of Iranian patients with CF. MATERIALS AND METHODS This case-series study was conducted i...
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ژورنال
عنوان ژورنال: Genetics and Molecular Biology
سال: 2011
ISSN: 1415-4757
DOI: 10.1590/s1415-47572011000300008