Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis |
| |
| Authors: | Laura Cremonesi Silvia Cainarca Annalisa Rossi Rita Padoan Maurizio Ferrari |
| |
| Affiliation: | (1) Clinical Molecular Biology Laboratory, IRCCS H. S. Raffaele, via Olgettina 60, I-20132 Milan, Italy Tel.: +39-2-26432303; Fax: +39-20-26432640, IT;(2) Unita’ di Genetica, DIBIT and Clinical Molecular Biology Laboratory, via Olgettina 60, I-20132 Milan, Italy, IT;(3) Laboratorio di Ricerche Cliniche, ICP, via Commenda 12, I-20122 Milan, Italy, IT;(4) Centro Fibrosi Cistica, Clinica Pediatrica II, Universita’ di Milano, via Commenda 9, I-20122 Milan, Italy, IT |
| |
| Abstract: | Search for mutations in a cystic fibrosis patient, compound heterozygous for 1717–1G→A and another uncharacterized molecular defect, revealed the presence of a de novo R1066H mutation on the affected chromosome of paternal origin. Three additional rare mutations (R1066C, R1066S and R1066L), occurring at the CpG dinucleotide at position 3328–3329 of the cystic fibrosis transmembrane conductance regulator gene, have so far been reported. The identification of a R1066H de novo mutation further suggests that this dinucleotide may constitute a mutational hotspot. Received: 10 November 1995 / Revised: 18 January 1996 |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
