Haplotype data based on the DNA markers closely linked to the cystic fibrosis (CF) gene have been used to correlate the presence of the 3 bp specific deletion (delta F508) in 424 CF chromosomes from 212 Italian CF families. The distribution and the frequency of the F508 deletion on CF chromosomes in our sample suggests the presence of at least a second mutation in the same ancestral haplotype.

Novelli, G., Gasparini, P., Savoia, A., Pignatti, P., Sangiuolo, F.c., Dallapiccola, B. (1990). Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families. HUMAN GENETICS, 85(4), 420-421 [10.1007/BF02428291].

Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families

NOVELLI, GIUSEPPE;SANGIUOLO, FEDERICA CARLA;
1990-09-01

Abstract

Haplotype data based on the DNA markers closely linked to the cystic fibrosis (CF) gene have been used to correlate the presence of the 3 bp specific deletion (delta F508) in 424 CF chromosomes from 212 Italian CF families. The distribution and the frequency of the F508 deletion on CF chromosomes in our sample suggests the presence of at least a second mutation in the same ancestral haplotype.
set-1990
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - GENETICA MEDICA
English
Con Impact Factor ISI
Cystic Fibrosis; Haplotypes; Humans; Italy; Polymorphism, Genetic; Chromosome Deletion
Novelli, G., Gasparini, P., Savoia, A., Pignatti, P., Sangiuolo, F.c., Dallapiccola, B. (1990). Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families. HUMAN GENETICS, 85(4), 420-421 [10.1007/BF02428291].
Novelli, G; Gasparini, P; Savoia, A; Pignatti, P; Sangiuolo, Fc; Dallapiccola, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/166561
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