These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].
    Author: Petrova NV, Ginter EK, Kapranov NI, El'chinova GI.
    Journal: Genetika; 1994 Jul; 30(7):974-7. PubMed ID: 7525404.
    Abstract:
    A sample of 165 patients who were inhabitants of Russia was screened for seven CFTR gene mutations, and analysis of polymorphism frequency at two marker loci (KM19 and VNTR in intron 6 of the CFTR gene) was performed in normal and mutant chromosomes. The frequencies of mutations in 330 mutant chromosomes were distributed as follows: delta F508, 57.5%; G542X, 1.07%; and R33AW, 0.45%. Mutations G551D, R553X, R347P, and 1154insTC were not found. Alleles and haplotypes of KM19 and VNTR loci in intron 6 of the CFTR gene were characterized by a marked linkage disequilibrium with the CFTR gene. Haplotype 2-6 showed an absolute linkage disequilibrium with the delta F508 mutation.
    [Abstract] [Full Text] [Related] [New Search]