Al Lawati, M (2021) Molecular background of serological D negative phenotype in the Omani population. Doctoral thesis, Liverpool John Moores University.

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Abstract

Many RHD allele molecular bases studies on serological D negative phenotype have been conducted in Caucasian and African populations. Study of RHD alleles was lacking in Arabs from Gulf (Omanis) which could be very helpful to come up with a molecular screening protocol for managing donors and patients carrying an RHD molecular variant. In the present study, we analyse the molecular background of serological D negative Omani population. A total of 203 dry blood samples on Whatman’s FTA card were collected from Omani cohort from different regions of the country. The samples were first analysed serologically followed by RHD genotyping using allele specific real-time PCR with melting curve analysis, a commercial allele specific PCR (BAGene kits), digital PCR and Sanger sequencing. Among the 203 serological D negative samples, 189 (93.1%) were phenotyped as true D negative. The true serological D negative samples indicated two patterns that were presence of 37 bp insertion in exon 4 that is unique for RHDѰ (n = 8) and presence of RHDѰ in cis to partial D without RHCE hybrid (n = 2). Total of 9 samples (4.43%) were reclassified as D positive (serological false D negative) indicated patterns that are; RHD-CE-Ds/RHD-CE(4)-D (n = 1), RHD-CE(5)-D in cis to weak D DAR2.00 (n = 1), partial D without RHCE hybrid (DIIIb) in cis to weak D type 45 (n = 1), RHD-CE(4)-D in cis to weak D DAR2.00 (n = 1), weak D type 4.2 in cis to weak D type 41 (n = 1), RHD-CE(4)-D in cis to RHD-CE(8-9)-D (n = 1), RHD-CE(4)-D in cis to weak D type 4.2 (n = 2,) and DVI.2 (RHD-CE(4-6)-D in cis or trans to DEL(IVS8-31T>C) (n = 1). Total of 5 samples were unclassified. Altogether, these studies showed serological limitation existence in 4.4% of the samples that reinforce RHD molecular typing and lay the foundation for the development of PCR based RHD genotyping screens in Oman.

Item Type:	Thesis (Doctoral)
Uncontrolled Keywords:	molecular basis of Rh blood group D-negative, RHD alleles, RHD genotyping, Omani population
Subjects:	R Medicine > RM Therapeutics. Pharmacology
Divisions:	Pharmacy & Biomolecular Sciences
Date Deposited:	20 Jan 2021 09:35
Last Modified:	28 Nov 2022 12:05
DOI or ID number:	10.24377/LJMU.t.00014274
Supervisors:	Ross, K, Louhelainen, J, Lowe, G and Flegel, B
URI:	https://researchonline.ljmu.ac.uk/id/eprint/14274

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