A 10-year large-scale cystic fibrosis carrier screening in the Italian population

被引：21

作者：

Picci, Luigi ^{[1
]}

Cameran, Marilena ^{[1
]}

Marangon, Oriana ^{[1
]}

Marzenta, Diana ^{[1
]}

Ferrari, Stefano ^{[2
]}

Frigo, Anna Chiara ^{[3
]}

Scarpa, Maurizio ^{[1
]}

机构：

[1] Univ Padua, Dept Paediat, I-35128 Padua, Italy

[2] Veneto Eye Bank Fdn, Venice, Italy

[3] Univ Padua, Dept Environm Med & Publ Hlth, I-35128 Padua, Italy

来源：

JOURNAL OF CYSTIC FIBROSIS | 2010年 / 9卷 / 01期

关键词：

Cystic fibrosis; Screening; CF carrier; CFTR; Reverse dot-blot; CONGENITAL BILATERAL ABSENCE; CFTR GENE; MUTATIONS; IDENTIFICATION; PANCREATITIS; HAPLOTYPES; FREQUENCY;

D O I：

10.1016/j.jcf.2009.10.003

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Background: Cystic Fibrosis (CF) is one of the most common autosomal recessive genetic disorders, with the majority of patients born to couples unaware of their carrier status. Carrier screenings might help reducing the incidence of CF. Methods: We used a semi-automated reverse-dot blot assay identifying the 47 most corm-non CFTR gene mutations followed by DGGE/dHPLC analysis. Results: Results of a 10-year (1996-2006) CF carrier screening on 57,999 individuals with no prior family history of CF are reported. Of these, 25,104 were couples and 7791 singles, with 77.9% from the Italian Veneto region. CFTR mutations were found in 1879 carriers (frequency 1/31), with Delta F508 being the most common (42.6%). Subjects undergoing medically assisted reproduction (MAR) had significantly (p < 0.0001) higher CF carrier frequency (1/22 vs 1/32) compared to non-MAR subjects. Conclusions: If coupled to counselling programmes, CF carrier screening tests might help reducing the CF incidence. (C) 2009 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

引用

页码：29 / 35

页数：7

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