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. 2011 Jul;34(3):416-20.
doi: 10.1590/S1415-47572011000300008. Epub 2011 Jul 1.

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

Angela Polizzi  1 , Riccardina Tesse, Teresa Santostasi, Anna Diana, Antonio Manca, Vito Paolo Logrillo, Maria Domenica Cazzato, Maria Giuseppa Pantaleo, Lucio Armenio
Affiliations

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

Angela Polizzi et al. Genet Mol Biol. 2011 Jul.

Abstract

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.

Keywords: CFTR; complex allele; cystic fibrosis; phenotype.

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Figures

Figure 1
Figure 1
Sequence electropherograms showing the complex allele [H939R;H949L] in CFTR exon 15, (A) forward and (B) reverse (Forward primer: TCAGTAAGTAACTTTGGCTGC; Reverse primer: CCTATTGATGGTGGATCAGC). Continuous arrows show the H939R mutation while the dashed arrows show the H949L mutation.
See this image and copyright information in PMC

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