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FREQUENCY OF THE CYSTIC-FIBROSIS DELTA-F508 MUTATION IN A LARGE SAMPLE OF THE FRENCH POPULATION
被引：8
作者：
VIDAUD, M
FEREC, C
ATTREE, O
PASCAL, O
GUILLERMIT, H
GHANEM, N
MARTIN, J
MOISAN, JP
FEINGOLD, J
GOOSSENS, M
机构：
[1] CTR DEPT TRANSFUS SANGUINE,F-29200 BREST,FRANCE
[2] FAC MED NANTES,INSERM,U211,F-44035 NANTES 1,FRANCE
[3] INST JACQUES MONOD,INST RECH BIOL MOLEC PARIS 07,F-75221 PARIS 05,FRANCE
关键词：
D O I：
10.1007/BF02428302
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ;
090102 ;
摘要：
We have determined the frequency of the cystic fibrosis (CF) ΔF508 mutation in a large sample of CF patients originating from different areas of France, including the greater Paris, Brittany, Alsace, Lorraine and Rhône-Alpes regions. A total of 422 CF chromosomes were studied, and the defect was found to account for 75% of the mutant alleles. In the course of the survey, a rare nucleotide sequence polymorphism leading to an isoleucine to valine substitution at position 506 of the CF transmembrane conductance regulator protein has been characterized in an unaffected individual. Our data enable the evaluation of the probabilities that a chromosome negative for the ΔF508 mutation carriers another CF defect. © 1990 Springer-Verlag.
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页码：434 / 435
页数：2
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