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NJBMS - Volume 4, Issue 1, July - September 2013

Pages: 5-10

ESTIMATION OF DNA DAMAGE IN NON SYNDROMIC CONGENITAL SKELETAL MALFORMATIONS USING COMET ASSAY

Author: RIJIED THOMPSON SWER, MARY HYDRINA D'SILVA, DYUTIMOY DATTA

Category: Anatomy

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Abstract:

Background and Objectives: Chromosomal aberrations, gene defects and environmental interactions between them are known to cause 20% to 40% of birth defects. Genome instability in the form of chromosomal breaks, deletions and translocations has been observed in the children with these anomalies. This study was attempted on non syndromic congenital skeletal malformations to correlate the phenotype with the extent of DNA damage.

Materials and Methods: A total of 20 children were studied. 10 of them, from newborns to 5 years of age presenting with various skeletal malformations not attributed to any syndrome, in the absence of other system anomalies, formed the case material. A proportionate number of them matched for age and sex formed the controls. Peripheral lymphocytes from both, cases and controls were subjected to the standard Comet Assay. This very sensitive assay to measure DNA damage is a single cell gel electrophoretic technique where damaged DNA moves out of the cell towards the anode forming a comet, the length of the comet tail being a measure of DNA damage.

Results: The skeletal deformities observed were Congenital Dysplasia Hip, Congenital Talipes Equino Varus and Arthrogryposis Multiplex Congenita. The mean tail length in cases was 21.55 ìm and in controls was 1.992 ìm with very high statistical correlation (P value < 0.0001).

Conclusion: Gene mutations have been widely quoted in errors of osteogenesis and ossification, particularly related to Fibroblast Growth Factor (FGF) FGF1 and FGF2 mutations. Thus the comets of the cases reflect either the chromosomal origin or the gene/s alteration of the skeletal malformations.

Keywords: DNA Damage, Congenital Skeletal Malformations

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Editor in Chief of NJBMS Dr.Deepti Shastri, Professor and Head, Department of Anatomy, Academic Co-ordinator for Pre and Paraclinical Sciences, VMKV Medical College & Hospital, Salem.


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