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Medicine and Health Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

Medical Specialties

United Arab Emirates University

Dissertations

2018

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Full-Text Articles in Medicine and Health Sciences

Genomic And Cellular Studies Establish The Pathogenesis And Cellular Mechanisms Of Disease-Causing Mutations In Families With Autosomal Recessive Disorders, Nesreen Khalid Ahmad Al Jezawi Feb 2018

Genomic And Cellular Studies Establish The Pathogenesis And Cellular Mechanisms Of Disease-Causing Mutations In Families With Autosomal Recessive Disorders, Nesreen Khalid Ahmad Al Jezawi

Dissertations

The majority of the reported genetic disorders in the UAE population are of the autosomal recessive type, which is mainly due to high rates of consanguinity within the UAE national population, and within a significant proportion of other UAE expatriate communities; such as Arabs and Pakistanis. It is estimated that more than 50% of all marriages among Emiratis occur between biologically related couples, with first cousin marriages being the highest. That could be attributed to sociocultural values in the region. Successful management of genetic diseases can be achieved by the implementation of effective preventative programs that could help reduce the …