Mutácia deltaF508 zaprícinujúca cystickú fibrózu a jej asociácia s tesne viazanými polymorfizmami DNA v slovenskej populácii.

Translated title of the contribution: The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population

L. Kádasi, J. Gécz, A. Puliti, M. Devoto, V. Ferák, G. Romeo, H. Kayserová, A. Kardosová, I. Hruskovic

Research output: Contribution to journalArticle

Abstract

Linkage relationships between DNA polymorphism metH/TaqI as well as KM19/PstI and the mutation causing cystic fibrosis (CF) were analyzed in 48 families from Slovakia with th occurrence of CF. The polymorphism metH/TaqI did not show linkage disequilibrium with CF mutation. A pronounced allelic association was however found between CF mutation and KM19/PstI polymorphism. Of the 83 CF chromosomes analyzed, the given mutation was associated with the 6.6 kb allele in 82% of cases, while the rate of this allele in chromosomes without the mutation amounts only to 24%. The value of the standardized disequilibrium coefficient SCD = 0.58. Delta F508 deletion was addressly studied in 25 patients (i.e. 50 CF chromosomes). Of the 50 CF mutations, the given deletion was in 64% (32), while the remaining 36% (18) of mutations were of other, closely not identified types. Delta F508 deletion is in marked allelic association with the 6.6 kb allele of KM19/PstI polymorphism (SCD = 0.68). Between the given allele of KM19/PstI polymorphism and CF mutation no other allelic association was found but with delta F508. (Tab. 6, Fig. 1, Ref. 18).

Original languageSlovak
Pages (from-to)141-145
Number of pages5
JournalBratislavské lekárske listy
Volume93
Issue number3
Publication statusPublished - 1 Jan 1992
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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