Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: A research study

被引：4

作者：

Dell'Edera D. ^{[1
]}

Benedetto M. ^{[1
]}

Gadaleta G. ^{[2
]}

Carone D. ^{[3
]}

Salvatore D. ^{[4
]}

Angione A. ^{[5
]}

Gallo M. ^{[5
]}

Milo M. ^{[1
]}

Pisaturo M.L. ^{[6
]}

Di Pierro G. ^{[6
]}

Mazzone E. ^{[7
]}

Epifania A.A. ^{[8
]}

机构：

[1] Unit of Cytogenetics and Molecular Genetics, Maddonna Delle Grazie Hospital, street Cattedra Ambulante, Matera

[2] Department of Biochemistry and Molecular Biology Ernesto Quagliariello, University of Bari, street Orabona 4, Bari

[3] Center of Reproduction and Andrology (CREA), street Scoglio del Tonno 79/81, Taranto

[4] Cystic Fibrosis Centre, AOR San Carlo Hospital, street Potito Petrone 1, Potenza

[5] Regional Center of Pharmacovigilance, Basilicata Region, street Potito Petrone 1, Potenza

[6] Unit of Obstetrics and Gynecology, AOR San Carlo Hospital, street Potito Petrone 1, Potenza

[7] Department of Surgical Science, University of Parma, Parma Hospital, street Gramsci 14, Parma

[8] Unit of Clinical Chemistry, Madonna Delle Grazie Hospital, street Cattedra Ambulante, Matera

来源：

Journal of Medical Case Reports | / 8卷 / 1期

关键词：

Cystic fibrosis; Cystic fibrosis conductance transmembrane regulator; Mutation analysis; Polymerase Chain Reaction; Screening in infertile couples;

D O I：

10.1186/1752-1947-8-339

中图分类号：

学科分类号：

摘要：

Introduction. Cystic fibrosis is the most common autosomal recessive genetic disease in the Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing.; Methods. This study reports the results of a molecular screening of cystic fibrosis using DNA samples of patients enrolled from January 2009 to December 2013. Patients were referred to our laboratory for cystic fibrosis screening for infertile couples. In addition, we identified the gene mutations present in 76 patients affected by cystic fibrosis in the pediatric population of Basilicata.; Results: In the 964 infertile couples examined, 132 subjects (69 women and 63 men) resulted heterozygous for one of the CFTR mutations, with a recurrence of carriers of 6.85%. The recurrence of carriers in infertile couples is significantly higher from the hypothetical value of the general population (4%).; Conclusions: This study shows that in the Basilicata region of Italy the CFTR phenotype is caused by a small number of mutations.Our aim is to develop a kit able to detect not less than 96% of CTFR gene mutations so that the relative risk for screened couples is superimposable with respect to the general population. © 2014 Dell'Edera et al.; licensee BioMed Central Ltd.

引用

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