Journal ArticleDOI
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
Núria Morral,Jaume Bertranpetit,Xavier Estivill,V. Nunes,Teresa Casals,Javier Giménez,André Reis,R. Varon-Mateeva,Milan Macek,Milan Macek,Luba Kalaydjieva,Dora Angelicheva,R. Dancheva,Giovanni Romeo,Maria Pia Russo,S. Garnerone,Gabriella Restagno,Maurizio Ferrari,C. Magnani,Mireille Claustres,Marie Desgeorges,Marianne Schwartz,Martin Schwarz,Bruno Dallapiccola,Giuseppe Novelli,Claude Férec,M. De Arce,M. Nemeti,M. Nemeti,Juha Kere,Maria Anvret,Niklas Dahl,Ludovit Kadasi +32 more
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TLDR
Haplotype data demonstrate that ΔF508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of ΔF50 in Europe.Abstract:
delta F508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and evolution of delta F508 chromosomes in Europe. Haplotype data demonstrate that delta F508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of delta F508 in Europe.read more
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On the allelic spectrum of human disease.
David Reich,Eric S. Lander +1 more
TL;DR: Human disease genes show enormous variation in their allelic spectra; that is, in the number and population frequency of the disease-predisposing alleles at the loci, so the theory does a reasonable job for diseases where the genetic etiology is well understood.
Journal ArticleDOI
Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
Raymonda Varon,Christine S. Vissinga,Matthias Platzer,Karen M. Cerosaletti,Krystyna H. Chrzanowska,Kathrin Saar,Georg Beckmann,Eva Seemanova,Paul R. Cooper,Norma J. Nowak,Markus Stumm,Corry M.R. Weemaes,Richard A. Gatti,Richard K. Wilson,Martin Digweed,André Rosenthal,Karl Sperling,Patrick Concannon,André Reis +18 more
TL;DR: The positional cloning of a gene encoding a novel protein, nibrin, which contains two modules found in cell cycle checkpoint proteins, a forkhead-associated domain adjacent to a breast cancer carboxy-terminal domain and a truncating 5 bp deletion are described.
Journal ArticleDOI
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
TL;DR: From comprehensive assessment of data, it is offered recommendations that multiple CFTR alleles should eventually be included to increase the sensitivity of newborn screening programs employing two‐tier testing with trypsinogen and DNA analysis.
Journal ArticleDOI
Global prevalence of putative haemochromatosis mutations.
TL;DR: The distribution of the C282Y mutation coincides with that of populations in which haemochromatosis has been reported and is consistent with the theory of a north European origin for the mutation.
Journal ArticleDOI
Cystic fibrosis: genotypic and phenotypic variations
Julian Zielenski,Lap-Chee Tsui +1 more
TL;DR: An unexpected finding is the documentation of CFTR mutations in patients with atypical CF disease presentations, including congenital absence of vas deferens and several pulmonary diseases, suggesting that the implication ofCFTR mutation is more profound than CF alone.
References
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The metabolic basis of inherited disease
TL;DR: The metabolic basis of inherited disease, the metabolic basis for inherited disease as mentioned in this paper, The metabolic basis in inherited disease and inherited diseases, and inherited disease diagnosis and management, in the context of inherited diseases
Journal ArticleDOI
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
John R. Riordan,Johanna M. Rommens,Batsheva Kerem,Noa Alon,Richard Rozmahel,Zbyszko Grzelczak,Julian Zielenski,Si Lok,Natasa Plavsic,Jia Ling Chou,Mitchell L. Drumm,Michael C. Iannuzzi,Francis S. Collins,Lap-Chee Tsui +13 more
TL;DR: A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
Journal ArticleDOI
Identification of the cystic fibrosis gene: genetic analysis.
Batsheva Kerem,Johanna M. Rommens,Janet A. Buchanan,Danuta Markiewicz,Tara K. Cox,Aravinda Chakravarti,Manuel Buchwald,Lap-Chee Tsui +7 more
TL;DR: Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.