OBJECTIVE: The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life. METHODS: In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles. RESULT: We identified 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygousin the examined sample was 1/27,5 while that of the affected was 1/2821. CONCLUSION: We encourage new thoughts regarding the diagnostic validity of the most frequent panel of mutations among the italian population in order to exclude never encountered mutations and the insertion of other more significant mutations.
OBJECTIVE: The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life. METHODS: In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles. RESULT: We identified 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygousin the examined sample was 1/27,5 while that of the affected was 1/2821. CONCLUSION: We encourage new thoughts regarding the diagnostic validity of the most frequent panel of mutations among the italian population in order to exclude never encountered mutations and the insertion of other more significant mutations.
Authors: S Rendine; F Calafell; N Cappello; R Gagliardini; G Caramia; N Rigillo; M Silvetti; M Zanda; A Miano; F Battistini; L Marianelli; G Taccetti; M C Diana; L Romano; C Romano; A Giunta; R Padoan; A Pianaroli; V Raia; G De Ritis; A Battistini; G Grzincich; L Japichino; F Pardo; A Piazza Journal: Ann Hum Genet Date: 1997-09 Impact factor: 1.670
Authors: J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou Journal: Science Date: 1989-09-08 Impact factor: 47.728
Authors: M J Alonso; D Heine-Suñer; M Calvo; J Rosell; J Giménez; M D Ramos; J J Telleria; A Palacio; X Estivill; T Casals Journal: Ann Hum Genet Date: 2007-03 Impact factor: 1.670
Authors: J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka Journal: Science Date: 1989-09-08 Impact factor: 47.728
Authors: Carolyn Sue Richards; Linda A Bradley; Jean Amos; Bernice Allitto; Wayne W Grody; Anne Maddalena; Matthew J McGinnis; Thomas W Prior; Bradley W Popovich; Michael S Watson; Glenn E Palomaki Journal: Genet Med Date: 2002 Sep-Oct Impact factor: 8.822
Authors: Maria Rosaria D'Apice; Stefano Gambardella; Mario Bengala; Silvia Russo; Anna Maria Nardone; Vincenzina Lucidi; Federica Sangiuolo; Giuseppe Novelli Journal: BMC Med Genet Date: 2004-04-14 Impact factor: 2.103