MECHANISM OF IDIOPATHIC SCOLIOSIS INHERITANCE
https://doi.org/10.14531/ss2005.1.112-121
Abstract
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.
About the Authors
Alla Mikhailovna Zaidman
Novosibirsk Research Institute of Traumatology and Orthopaedics
Russian Federation
Russian Federation
Tatyana Iosifovna Aksenovich
Institute of Cytology and Genetics, SB RAS, Novosibirsk
Russian Federation
Russian Federation
Mikhail Anatolyevich Sadovoy
Novosibirsk Research Institute of Traumatology and Orthopaedics
Russian Federation
Russian Federation
Irina Leonidovna Tregubova
Novosibirsk Research Institute of Traumatology and Orthopaedics
Russian Federation
Russian Federation
Ruslan Niljevich Sharipov
Institute of Cytology and Genetics, SB RAS, Novosibirsk
Russian Federation
Russian Federation
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Review
For citations:
Zaidman A.M., Aksenovich T.I., Sadovoy M.A., Tregubova I.L., Sharipov R.N. MECHANISM OF IDIOPATHIC SCOLIOSIS INHERITANCE. Russian Journal of Spine Surgery (Khirurgiya Pozvonochnika). 2005;(1):112-121. (In Russ.) https://doi.org/10.14531/ss2005.1.112-121
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