The frequency of the delta F508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs.

Autor: Lerer I; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel., Cohen S, Chemke M, Sanilevich A, Rivlin J, Golan A, Yahav J, Friedman A, Abeliovich D
Jazyk: angličtina
Zdroj: Human genetics [Hum Genet] 1990 Sep; Vol. 85 (4), pp. 416-7.
DOI: 10.1007/BF02428288
Abstrakt: We have analysed the distribution of the delta F508 mutation and the haplotypes of cystic fibrosis (CF) bearing chromosomes among the Israeli CF population. The population was classified according to its ethnic origin and included 3 groups, Ashkenazi Jews, Sephardic/Oriental Jews and Arabs. Haplotype B (KM19 allele 2, XV2c allele 1) was found to be the predominant haplotype in all groups but in each of them the haplotype distribution was different. The delta F508 mutation was present in all groups and accounts for 32% of the CF mutations. It was mainly associated with the B haplotype but only one third of the CF chromosomes with this haplotype carry the delta F508 mutation.
Databáze: MEDLINE
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