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Title: Investigation of candidate gene polymorphisms in high altitude disorders
Researcher: Tsering, Stobdan
Guide(s): Pasha, M A Qadar
Keywords: Genomics, Integrative Biology, pathophysiology, Bio-technology, Biology, Diseases, Genomic DNA
Upload Date: 26-Aug-2011
University: University of Pune
Completed Date: December, 2008
Abstract: High-altitude environment is characterized by hypobaric-hypoxia. As oxygen is of fundamental importance for the survival of living organisms, the hypoxic environment is the major selecting force at HA. Despite this, humans have occupied the high plateaus and mountains of the Andes and the Himalayas for thousands of years. Although sea level natives can, and often do, travel in these rarefied reaches, there is little doubt that natives born and raised in the "thin" air are better equipped to deal with the reduced availability of oxygen at altitude. A good percentage of sojourners however suffer from different HA ailment. The risk of altitude illness increases directly with the rate of ascent and the altitude reached - with increasing abruptness as altitude increases. Although a sojourner may experience decreased performance at altitudes as low as 1500m, the disease manifestation related to elevation is very rare below 2500m, while HA natives maintain routine physical activities. This attributes to that of natural selection of over thousands of years resulting in some populations being genetically more suited to the stresses at HA. The relative contribution of the environmental factors and genetic heritage towards acquiring those traits is yet to be resolved as identification of genetic variants which help adapt at HA is crucial in order to avoid the detrimental consequences of hypoxia. In both, pathogenesis of HA disorders or HA adaptation/performance, blood pressure (BP)/hypertension is one of the physiological parameters, which plays a critical homeostatic function. The Renin-Angiotensin-Aldosterone System (RAAS) contributes significantly to the regulation of BP, vascular tone, cardiovascular remodeling, electrolyte and volume homeostasis and the earlier studies have explored the association analysis of allelic variants of the RAAS genes in addition to Nitric Oxide Synthases with HA adaptation/ disorder.
Pagination: ix, 194p.
Appears in Departments:Institute of Genomics and Integrative Biology

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01_title.pdfAttached File1.76 MBAdobe PDFView/Open
02_declaration.pdf1.76 MBAdobe PDFView/Open
03_certificate.pdf1.76 MBAdobe PDFView/Open
04_acknowledgements.pdf1.77 MBAdobe PDFView/Open
05_contents.pdf1.77 MBAdobe PDFView/Open
06_list of tables.pdf1.76 MBAdobe PDFView/Open
07_list of figures.pdf1.77 MBAdobe PDFView/Open
08_abbreviations.pdf1.76 MBAdobe PDFView/Open
09_abstract.pdf1.78 MBAdobe PDFView/Open
10_chapter1.pdf1.87 MBAdobe PDFView/Open
11_chapter2.pdf1.9 MBAdobe PDFView/Open
12_chapter3.pdf1.86 MBAdobe PDFView/Open
13_chapter4.pdf1.87 MBAdobe PDFView/Open
14_summary & conclusions.pdf1.77 MBAdobe PDFView/Open
15_bibliography.pdf1.85 MBAdobe PDFView/Open
16_credentials.pdf1.77 MBAdobe PDFView/Open

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