Insertion-deletions burden in copy number polymorphisms of the Tibetan population.
Indian J Hum Genet
;
2014 Apr-Jun ; 20 (2): 166-174
Article
in English
| IMSEAR
| ID: sea-156655
ABSTRACT
BACKGROUND:
Many studies have been conducted to identify either insertions-deletions (inDels) or copy number variations (CNVs) in humans, but few studies have been conducted to identify both of these forms coexisting in the same region. AIMS ANDOBJECTIVES:
To map the functionally significant sites within human genes that are likely to influence human traits and diseases. MATERIALS ANDMETHODS:
In this report, we describe an inDel map in the 1051 Tibetan CNV regions obtained through CNV genotyping using Affymetrix Genome-wide single nucleotide polymorphism 6.0 chip. InDel polymorphisms in these copy number polymorphism regions were identified with a computational approach using the 2500 deoxyribonucleic acid sequences obtained from the 1000 Genome Project.RESULTS:
The study identified a total of 95935 inDels that range from 1 bp to several bps in length which were found scattered across regulatory regions, exons and in introns of genes underlying the CNVs. A study on the distribution of inDels revealed that the majority of inDels were found in coding regions of the genome than the noncoding, while within the genes, inDels in intron regions were more followed by exonic regions and finally the regulatory regions.CONCLUSION:
Study of inDels in CNV regions contribute to the enhanced understanding of the role played by the two variations and their collective influence on the genome. Further, a collection of these inDel genetic markers will aid in genetic mapping, further understanding of the phenotypic variability, identification of disease genes and in detecting novel CNVs.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Polymorphism, Genetic
/
Population
/
Humans
/
Sequence Deletion
/
Tibet
/
INDEL Mutation
/
DNA Copy Number Variations
/
Genotype
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Hum Genet
Year:
2014
Type:
Article
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