Open AccessStudy of human thyroglobulin gene polymorphism
Author(s) -
Д. А. Кадырова,
Б. А. Атаханова,
М. Л. Рахимова,
Г. Д. Умарова,
Ya. Kh. Turakulov
Publication year - 1996
Publication title -
problemy èndokrinologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.124
H-Index - 5
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl12089
Subject(s) - restriction fragment length polymorphism , genetics , gene , polymorphism (computer science) , ecorv , restriction enzyme , biology , thyroglobulin , population , microbiology and biotechnology , genotype , thyroid , medicine , environmental health
The main goal of this work was to conduct a population genetic analysis of RFLP detected in the TG gene and to develop a system of molecular genetic studies of hereditary thyroid diseases associated with polynucleotide rearrangements in the structure of TG. A population genetic analysis of RFLP detected in the TG gene was carried out. When splitting blood samples of healthy Tashkent residents with EcoRV and Taql restriction enzymes, 2 pairs of alternative variants of normal RFLP were detected - 13.8 or 8.5 and 5.8 or 6.2 bp respectively. In order to detect RFLP in the TG gene for congenital hypothyroidism, DNA samples from 2 families (mother, father, daughter) with a clinical diagnosis of congenital hypothyroidism were analyzed and the same variants of RFLP found in healthy individuals.