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Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked loci.

Genotyping of the Spanish cystic fibrosis population at the delta F508 mutation site and RFLP linked loci.

Authors :
Jaume-Roig B
Simon-Bouy B
Taillandier A
Serre JL
Antich J
Bellon J
Boué J
Boué A
Source :
Human genetics [Hum Genet] 1990 Sep; Vol. 85 (4), pp. 410-1.
Publication Year :
1990

Abstract

Spanish families (n = 75) with at least one affected cystic fibrosis (CF) child were typed for restriction fragment length polymorphisms (RFLPs) by the probes XV2c, KM19, and pMP6d-9. These families were also studied at the 508 mutation site by the polymerase chain reaction method. We have studied the linkage disequilibrium between these markers and the CF mutations, the probable number of independent secondary CFX (non-delta F508) mutations, and the genetic differences between Spain and Western Europe.

Details

Language :
English
ISSN :
0340-6717
Volume :
85
Issue :
4
Database :
MEDLINE
Journal :
Human genetics
Publication Type :
Academic Journal
Accession number :
1976593
Full Text :
https://doi.org/10.1007/BF02428284