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Development of allelic discrimination assay to detect Mediterranean G6PD mutation and its linked inheritance with normal vision and/colorblindness loci for 4 generations among Egyptian and Emirati families.
Maloukh, Lina; Kumarappan, Alagappan; El-Din El-Wakil, Houssam; Al-Kamali, Fatima; Gomma, Fatma; Akhondi, Amin; T V, Rajya Lakshmi.
Afiliación
  • Maloukh L; Zayed University, College of Natural and Health Sciences, Abu Dhabi, Khalifa City, United Arab Emirates.
  • Kumarappan A; Al Qassimi Women's and Children's Hospital, Molecular Biology Laboratory (Pure Health), Wasit Street, Sharjah, United Arab Emirates.
  • El-Din El-Wakil H; Alexandria University, Faculty of Agriculture (Saba Basha), Alexandria, Egypt.
  • Al-Kamali F; Dubai Health Authority, Dubai, United Arab Emirates.
  • Gomma F; Science Tribune Software House, Dubai, United Arab Emirates.
  • Akhondi A; University of Modern Sciences, College of Biotechnology, Dubai, United Arab Emirates.
  • T V RL; Beaconhouse International College, Science Department, Ontario, Canada.
Saudi J Biol Sci ; 28(9): 5028-5033, 2021 Sep.
Article en En | MEDLINE | ID: mdl-34466078
G6PD deficiency c563T is the most common inherent blood disease among the Mediterranean populations and its molecular diagnosis is critical as the enzyme assay fails for heterozygous individuals. The purpose of the study is to estimate the ubiquity of the heterozygous G6PD Med (c563T) variants among Egyptians and UAE nationals living in Dubai. We validated two molecular methods, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and qPCR allelic discrimination assay for detection of G6PD Med variants. Among 100 screened individuals, G6PD c563T variants are 30% of whom 15% are carriers. Sanger sequencing validated the qPCR discrimination assays. In search of a phenotypic marker to detect G6PD heterozygous variants, inheritance of G6PD locus and red-green color vision genes is studied in 1 Egyptian and 2 Emirati families. Among the 3 families, G6PD is polymorphic, displaying 4 phenotypes: in phenotype-1, person is normal, in phenotype-2 the person has no G6PD deficiency but with deuteranopia/deuteranomaly, in phenotype-3 the person is G6PD Med variant with deuteranopia/deuteranomaly and in phenotype 4 the person is G6PD Med variant has normal vision. Based on the molecular analysis of G6PD and Ishihara vision test it can be concluded that the two mutations at the two loci arose independent of each other without any interaction (epistatic effect) between them. Following the pedigree analysis of the two genes for 4 generations it is presumed that it is infeasible to use "deuteranopia /deuteranomaly" as a phenotypic marker to detect G6PD c563T heterozygous individuals among the Egyptian populations.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Saudi J Biol Sci Año: 2021 Tipo del documento: Article País de afiliación: Emiratos Árabes Unidos Pais de publicación: Arabia Saudita
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Saudi J Biol Sci Año: 2021 Tipo del documento: Article País de afiliación: Emiratos Árabes Unidos Pais de publicación: Arabia Saudita