Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 3 of 3
Full-Text Articles in Life Sciences
Identification Of Inherited And De Novo Exomic Variations In An Emirati Family With Neurodevelopmental Disorders, Asmaa Samir Abdelaziz Refaey
Identification Of Inherited And De Novo Exomic Variations In An Emirati Family With Neurodevelopmental Disorders, Asmaa Samir Abdelaziz Refaey
Biology Theses
Neurodevelopmental disorders (NDDs) are a heterogenous group of disorders that affect children at any point of development and lead to mental and motor function deficits. Often, the underlying cause could be genetic and inherited. This study investigated possible genetic variations that could have led to these neurological abnormalities and other genetic disorders in an Emirati family. Whole exome sequencing (WES) was used to sequence the protein-coding regions of the genome to identify potential de novo and inherited variants that are associated with disorders in this family.
WES of DNA from the parents and ten children were performed. Several variants were …
Study Of Insertion-Deletion Polymorphisms (Indels) In The Uae Population, Maryam M. Matar Almheiri
Study Of Insertion-Deletion Polymorphisms (Indels) In The Uae Population, Maryam M. Matar Almheiri
Biology Theses
Insertion-deletion polymorphisms (indels) have been used less in forensic identification of individuals in comparison to short tandem repeat (STR) and single nucleotide polymorphism (SNP) systems. The use of indels has many advantages including low costs, simple typing methods as well as a small amplicon size of under 160 bp making them suitable for genotyping highly degraded DNA. They can also be valuable as a complementary tool to help resolve kinship cases, with the advantage of lower mutation rates when compared to STRs.
The main objective of this study was to investigate the polymorphism of 30 indel loci in the UAE …
A Study On Vitamin D Metabolic Genes Single Nucleotide Polymorphisms And Their Linkage In Adult Asthmatic Emiratis, Amneh Mohammad Al Mousa
A Study On Vitamin D Metabolic Genes Single Nucleotide Polymorphisms And Their Linkage In Adult Asthmatic Emiratis, Amneh Mohammad Al Mousa
Biology Theses
Vitamin D normal levels are vital to many biological processes including its classical role in calcium and phosphate homeostasis, and regulation of immune and non-immune cells. Vitamin D mediates its actions via the vitamin D receptor (VDR) which is expressed in most tissues of the body including the airway smooth muscle. Asthma is a syndrome of chronic inflammatory airway disease. There is a genetic and immunological link between vitamin D and asthma. In this study, we aim to investigate whether asthma and its severity were associated with single nucleotide polymorphisms (SNPs) in vitamin D metabolic genes as well as vitamin …