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Volume 18 (2) 2012, 95-101

Linkage Analysis as an Approach for Disease-related Loci Identification

Nowak Dorota M. 1, Pitarque Jose A. 2, Molinari Andrea 2, Bejjani Bassem A. 3, Gajecka Marzena 1*

1Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
2Department of Ophthalmology, Hospital Metropolitano, Quito, Ecuador
3Revemic Systems, Spokane, Washington, USA
*e-mail: gamar@man.poznan.pl

Received:

(Received: 10 February 2012; accepted: 6 June 2012; published online: 23 August 2012)

DOI:   10.12921/cmst.2012.18.02.95-101

OAI:   oai:lib.psnc.pl:415

Abstract:

Extensive progress in human genetics and clinical diagnostics allowed identification of the majority of genetically-related diseases. Still, the genes responsible for numerous diseases have not been recognized and frequently the disease etiology remains unknown. This is true for keratoconus, the study subject of this article. Therefore, before mutation analysis or other sequence variant assessment, it is essential to identify the chromosomal region, where a gene
or genes causing the disease phenotype are located. To achieve that, advanced bioinformatics methods are applied to data obtained from molecular research to narrow the chromosomal region containing the disease locus.

Key words:

keratoconus, linkage analysis, multifactorial disease

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