Analysis of Xenobiotics Biotransformation and DNA Repair Genes as Factors of Aetiology, Pathogenesis and Criteria of Progression in Children with Congenital Spine Deformities
Introduction: Spine congenital curvatures formed as a result of anomalies in the development of vertebral bodies leads to severe and rigid deformities of the spinal column in the adolescent age and are often accompanied by irreversible neurologic disorders. Therefore genetic markers study of the...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2018-12-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/12517/37702_CE[Ra1]_F(AC)_PF1(AB_SL)_PN(SL).pdf |
| Summary: | Introduction: Spine congenital curvatures formed as a result of
anomalies in the development of vertebral bodies leads to severe
and rigid deformities of the spinal column in the adolescent age
and are often accompanied by irreversible neurologic disorders.
Therefore genetic markers study of the congenital malformations
is an important and urgent task.
Aim: The aim of the study is to determine the frequency of
detoxification and reparation genes polymorphism in congenital
spine deformities patients.
Materials and Methods: The study of 200 children with
Congenital Spine Deformities (CSD) between the age of 1 year
2 months to 16 years and 96 healthy children aged from 2 to
16 years without pathology of the spine was carried out by the
methods of clinical and radiographic diagnostics. Molecular
diagnostics was carried out by analysing multiple polymorphic
regions in the genes of detoxification and DNA repair, which
are of clinical importance due to their predisposing factors in
various congenital malformations. Genotyping of the gene
polymorphism was performed using Polymerase Chain
Reaction (PCR) and the PCR products were visualised by gel
electrophoresis.
Results: The polymorphisms of the genes CYP1A2, GSTM1,
GSTT1, GSTP1, NAT2, XRCC1, XRCC3 and their frequency
distribution among patients with CSD and control group were
investigated. Significant differences in the distribution of
genotypes compared with the control group were found in the
polymorphic regions of the genes CYP1A2, GSTM1, GSTT1,
NAT2, XRCC3. However, in the GSTP1 and XRCC1 genes,
no significant differences between the CSD patients and the
control group was observed.
Conclusion: All patients with congenital spine deformities
had significant changes in some candidate genes alleles. It
was found that the number of minor alleles in the genes under
investigation correlate with the severity of congenital deformity
and the variability of vertebral anomalies. It was determined
that in children with multiple and combined defects in the spine
development, there is a greater number of mutations in the
detoxification and DNA-repair genes compared to children with
isolated vertebral anomalies. |
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| ISSN: | 2249-782X 0973-709X |