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Literature DB >> 1376297

Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.

L Kádasi¹, J Gécz, J Matúsek, T Krivusová, V Ferák, M Devoto, J Hruskovic, G Romeo.

Abstract

Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the delta F508 mutation was 58% in this population, and that the frequency of the B (i.e., KM19/XV2c [1-2]) haplotype was increased in both delta F508 and non-delta F508 CF chromosomes (98% and 46%, respectively). These results support the view that the trans-European gradient of the delta F508 frequency is of a geographical rather than of an ethnic origin, and that in Slavonic populations, there exists an as yet unidentified but frequent CF mutation other than delta F508, associated with the B haplotype.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 1992 PMID： 1376297 DOI： 10.1007/bf00220546

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

9 in total

1 in total

1. Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Authors: N Morral; R Llevadot; T Casals; P Gasparini; M Macek; T Dörk; X Estivill
Journal: Am J Hum Genet Date: 1994-11 Impact factor: 11.025

1 in total

Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.

1. Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR.

2. Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium.

3. Identification of the cystic fibrosis gene: genetic analysis.

4. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.

5. Nonuniform recombination within the human beta-globin gene cluster.

6. Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.

7. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

8. Identification of the cystic fibrosis gene: chromosome walking and jumping.

9. First analysis of the F508 deletion in cystic fibrosis patients from the GDR.

1. Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.