BIOMAT Database Logo BIOMAT Database Logo

Regional distribution of cystic fibrosis linked DNA haplotypes in Italy, a collaborative study. 1990

P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Istituto di Scienze Biologiche, Università di Verona, Italy.

In view of the reported variations of cystic fibrosis (CF) associated haplotypes among populations, a detailed analysis of the distribution of two tightly linked DNA markers (Xv-2c and KM.19) in 18 Italian regions was performed. Haplotypes were determined for 405 CF chromosomes carrying the mutation, and showed significant heterogeneity between the North, Center, and South of Italy and the island of Sardinia. KM.19/PstI Restriction Fragment Length Polymorphism (RFLP) showed significant heterogeneity in these four areas, and was statistically correlated with the geographic distribution of the disease, while Xv-2c/TaqI polymorphism, like the haplotypes of normal chromosomes, was more uniformly distributed over the same four areas. Correlation coefficients between the markers and the mutation have been used to obtain additional indications on the physical distance between the markers and the fibrosis locus.

UI MeSH Term Description Entries
D007558 Italy A country in southern Europe, a peninsula extending into the central Mediterranean Sea, northeast of Tunisia. The capital is Rome. Sardinia
D011995 Recombination, Genetic Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses. Genetic Recombination,Recombination,Genetic Recombinations,Recombinations,Recombinations, Genetic
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study.
February 1997, Human biology,
P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution.
September 1997, Annals of human genetics,
P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study.
July 1988, American journal of human genetics,
P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations.
October 1989, Human genetics,
P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.
December 1986, American journal of human genetics,
P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Preliminary study of haplotypes linked to the rare cystic fibrosis E1104X mutation.
March 2015, Acta physiologica Hungarica,
P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Regional distribution of macroscopic lung disease in cystic fibrosis.
April 1986, The American review of respiratory disease,
P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.
April 2001, Human biology,
P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
DNA technology for prenatal diagnosis of cystic fibrosis in Italy.
January 1991, Advances in experimental medicine and biology,
P Gasparini, and N Cappello, and B Dallapiccola, and M Devoto, and X Estivill, and M Ferrari, and G Leoni, and G Novelli, and A Piazza, and P F Pignatti
Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.
January 2018, Gene,
Copied contents to your clipboard!