Open AccessMECHANISM OF IDIOPATHIC SCOLIOSIS INHERITANCE
Author(s) -
А. М. Зайдман,
Tatyana Iosifovna Aksenovich,
M. A. Sadovoy,
Irina Tregubova,
Ruslan N. Sharipov
Publication year - 2005
Publication title -
hirurgiâ pozvonočnika
Language(s) - English
Resource type - Journals
eISSN - 2313-1497
pISSN - 1810-8997
DOI - 10.14531/ss2005.1.112-121
Subject(s) - pedigree chart , penetrance , proband , genetics , exon , scoliosis , genotype , etiology , major gene , gene , biology , medicine , mutation , pathology , phenotype
The etiologic factor of idiopathic scoliosis (IS) is a subject of discussions for scientists of different disciplines. The great number of theories testifies to an absence of a uniform sight on etiology and pathogenesis of this pathology. Objectives: to investigate the mechanism of genetic determination of IS. Materials and methods: 101 probands with II–IV grade IS and 703 family members of I–III degree of relationship were examined by clinical-genetic, radiological and optical-topographical methods. The pedigrees were processed by a method of segregation analysis. G3 exon of agrecan gene was studied from isolated family DNA by method of PCR reaction. Results: Segregation analysis of pedigrees, in which proband had II–IV grade IS has shown, that IS is inherited according to autosomal-dominant type with incomplete genotype penetrance depending on sex and age. It is revealed that idiopathic scoliosis is controlled by a major gene. Study of connection of agrecan gene to determination of IS development on a small sample of pedigrees has not revealed a reliable association of IC with polymorphism of G3 exon. Investigation of another exons of agrecan gene on expanded pedigrees is continued.