Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients
| Autor: | Brigitte Simon-Bouy, J. L. Serre, A. Taillandier, André Boué, Etienne Mornet, Joëlle Boué |
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| Rok vydání: | 2008 |
| Předmět: |
Cystic Fibrosis
Oligonucleotides Cystic Fibrosis Transmembrane Conductance Regulator Prenatal diagnosis Locus (genetics) Biology Cystic fibrosis Pregnancy Prenatal Diagnosis Genetics medicine Humans Gene Alleles Genetics (clinical) Genetic Carrier Screening Haplotype Chromosome Mapping Membrane Proteins Nucleic Acid Hybridization medicine.disease Cystic fibrosis transmembrane conductance regulator Pedigree Blotting Southern Genes Genetic marker Mutation biology.protein Female France Restriction fragment length polymorphism |
| Zdroj: | Clinical Genetics. 40:218-224 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | Thirteen mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been screened in a French sample of 185 cystic fibrosis (CF) patients, together with their respective associated RFLP haplotypes at the linked D7S23 locus (XV2C and KM19 markers). The respective frequencies of the mutations showed that 9 of them account for 80% of the CF chromosomes. Implications for prenatal diagnosis and heterozygote detection are defined and discussed. The well-known great excess of RFLP B marker within CF chromosomes is partially explained by two already characterized mutations highly associated with haplotype B: delta F508 and G542X. Similarly, the excess of haplotype D within CF chromosomes is partially explained by the association between delta I507 and this haplotype. These results may suggest the existence of two still untested or uncharacterized mutations, whose frequencies could be near 1%, one which would be associated with haplotype B and a second which would be associated with haplotype D. The possible cause of the specific association between most of the main different CF mutations and the RFLP haplotype B is discussed. |
| Databáze: | OpenAIRE |
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