HUMAN GENOME DESIGN, RESHUFFLES AND GENOMIC DISORDERS.
Journal Title: Journal of Biomedical and Pharmaceutical Research - Year 2013, Vol 2, Issue 3
Abstract
Many human hereditary disorders come about because of unstable chromosome anomalies, where there is an addition or loss of hereditary material. Such irregular characteristics regularly disturb extensive amounts of dosage - sensitive, developmentally important genes & consequence in particular and intricate phenotypes. Then again, some chromosomal syndromes may be created by a deletion or reduplication of a solitary gene with pleiotropic impacts. Typically, chromosome variations are recognized by visual examination of the chromosomes under a optical microscope. The utilization of molecular cytogenetic advances, for example fluorescence in situ hybridization & microarrays, has taken into account the Identification of secretive or submicroscopic irregular appearances, which are not noticeable under the light microscope. Microarrays have been considered as a distinguishing proof of various new syndromes through a genotype-first method where patient with the same or coinciding genomic modifications are distinguished then after that the phenotypes are depicted. On the grounds that numerous chromosomal modifications are vast and incorporate various genes, the ascertainment of individuals with overlying omissions and differing clinical characteristics might permit scientists to restrict the area in which to look for candidate genes.
Authors and Affiliations
Madhulika Kabra| Professor, Department of Pediatrics, AIIMS Hospital, India., Pramod Khatri*| Department of Pediatrics, AIIMS Hospital, India.
Keywords
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