Insertion-deletions burden in copy number polymorphisms of the Tibetan population.
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.


OBJECTIVE
To map the functionally significant sites within human genes that are likely to influence human traits and diseases.


METHODS
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.


CONCLUSIONS
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.
Department of Neurology, JSS Hospital, Mysore, Karnataka, India.
Avinash M
AM
Veerappa
Department of Neurology, JSS Hospital, Mysore, Karnataka, India.
Sangeetha
S
Vishweswaraiah
Department of Neurology, JSS Hospital, Mysore, Karnataka, India.
Kusuma
K
Lingaiah
Department of Neurology, JSS Hospital, Mysore, Karnataka, India.
N Megha
NM
Murthy
Department of Neurology, JSS Hospital, Mysore, Karnataka, India.
Raviraj V
RV
Suresh
Department of Neurology, JSS Hospital, Mysore, Karnataka, India.
Keshava
K
Belur
Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
Nallur B
NB
Ramachandra
Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
Tejaswini
Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
Niveditha B
NB
Patel
Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
P K Supriya
PK
Gowda
Copy number variations; Tibet; insertions-deletions; insertions-deletions burden