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Title: Molecular genetic analysis of some mutations in the cystic fibrosis gene in Moldova: Characterization of molecular markers and their linkage to various mutations

Sixty-one patients with cystic fibrosis (CF) from Moldova were tested for mutations {Delta}F508, G551D, and R553X. Frequencies of various alleles of the repeated GATT sequence in intron 6B of the GFTR gene, their linkage to other polymorphic markers, and various mutations were determined. The frequency of occurrence of mutation {Delta}F508 was only 25%. An absolute majority of CF patients (80%) had pancreatic insufficiency. Mutations G551D and R553X were not found in our sample. Each of 31 chromosomes with mutation {Delta}F508 carry the 6-GATT allele. Most {open_quotes}non {Delta}F508{close_quotes} (78%) and normal (80%) chromosomes were marked by the 7-GATT allele. Twenty-seven {Delta}F508 chromosomes (96.4%) belong to haplotype B6, and only one to D6. Most chromosomes with {open_quotes}non {Delta}F508{close_quotes} mutations are associated with haplotypes D7 (26.3%) and C7 (21%). In addition, a significant portion of chromosomes from this subgroup were associated with haplotypes A7 (23.7%), A6 (10.5%), and C6 (2.7%), which are not yet described for mutant chromosomes. The results obtained demonstrate that CF in Moldova is mainly associated with mutations other than {Delta}F508, G551D, and R553X. Severe forms of the disease, with pancreatic insufficiency, are more frequently caused by these mutations; moreover, our data provides strong evidence for the presence of atmore » least seven additional CF mutations in Moldova, apart from {Delta}F508, G551D, and R553X. Some of these are probably not described.« less
Authors:
;  [1] ; ;  [2]
  1. Scientific Center of Medical Genetics, Moscow (Russian Federation)
  2. Ott Institute of Obsterics and Gynecology, St. Petersburg (Russian Federation)
Publication Date:
OSTI Identifier:
56717
Resource Type:
Journal Article
Resource Relation:
Journal Name: Russian Journal of Genetics; Journal Volume: 30; Journal Issue: 12; Other Information: PBD: Dec 1994; TN: Translated from Genetika; 30: No. 12, 1616-1620(1994)
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; MOLDOVA; HUMAN POPULATIONS; HUMAN CHROMOSOMES; GENE MUTATIONS; CHROMOSOMAL ABERRATIONS; FIBROSIS; HEREDITARY DISEASES