A 10-year large-scale cystic fibrosis carrier screening in the Italian population
| Autor: | Anna Chiara Frigo, Marilena Cameran, Stefano Ferrari, Oriana Marangon, Diana Marzenta, Luigi Picci, Maurizio Scarpa |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Pulmonary and Respiratory Medicine Heterozygote medicine.medical_specialty Reproductive Techniques Assisted Cystic Fibrosis Transmembrane Conductance Regulator Genetic Counseling Cystic fibrosis Cftr gene Young Adult Internal medicine Reverse dot-blot Humans Point Mutation Medicine Genetic Testing Pediatrics Perinatology and Child Health Family history CFTR ΔF508 CF carrier Genetics business.industry Genetic Carrier Screening Incidence Incidence (epidemiology) Middle Aged medicine.disease Italian population Cystic Fibrosis Carrier Screening Italy Pediatrics Perinatology and Child Health Screening Female Carrier screening business |
| Zdroj: | Journal of Cystic Fibrosis. 9(1):29-35 |
| ISSN: | 1569-1993 |
| DOI: | 10.1016/j.jcf.2009.10.003 |
| Popis: | BackgroundCystic 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.MethodsWe used a semi-automated reverse-dot blot assay identifying the 47 most common CFTR gene mutations followed by DGGE/dHPLC analysis.ResultsResults 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 ΔF508 being the most common (42.6%). Subjects undergoing medically assisted reproduction (MAR) had significantly (p |
| Databáze: | OpenAIRE |
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