Molecular characterization of G6PD deficiency in Oman

Shahina Daar, Tom J. Vulliamy, Jaspal Kaeda, Philip J. Mason, Lucio Luzzatto

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Screening of unselected university students in the Sultanate of Oman revealed an overall frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency of 26% in males. Samples from 23 G6PD-deficient individuals (a random sub-sample of the student population), were characterised biochemically and at the molecular level. Of 20 deficient men, 15 had G6PD Mediterranean, 2 had G6PD Chatham, 1 had G6PD A- and in 2 the mutation is not yet known. Of the 3 G6PD-deficient woman, 2 were homozygous for the G6PD Mediterranean mutation and 1 was a genetic compound, G6PD Mediterranean/G6PD A- (the first report of this genotype). Our findings establish that the G6PD Mediterranean mutation accounts for most cases of G6PD deficiency in Oman. The presence of G6PD A- at a polymorphic frequency can be regarded as evidence of significant gene flow from Africa.

Original languageEnglish
Pages (from-to)172-176
Number of pages5
JournalHuman Heredity
Volume46
Issue number3
Publication statusPublished - May 1996

Fingerprint

Oman
Glucosephosphate Dehydrogenase Deficiency
Glucosephosphate Dehydrogenase
Mutation
Students
Gene Flow
Genotype

Keywords

  • G6PD deficiency
  • Omani population
  • Population study

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Daar, S., Vulliamy, T. J., Kaeda, J., Mason, P. J., & Luzzatto, L. (1996). Molecular characterization of G6PD deficiency in Oman. Human Heredity, 46(3), 172-176.

Molecular characterization of G6PD deficiency in Oman. / Daar, Shahina; Vulliamy, Tom J.; Kaeda, Jaspal; Mason, Philip J.; Luzzatto, Lucio.

In: Human Heredity, Vol. 46, No. 3, 05.1996, p. 172-176.

Research output: Contribution to journalArticle

Daar, S, Vulliamy, TJ, Kaeda, J, Mason, PJ & Luzzatto, L 1996, 'Molecular characterization of G6PD deficiency in Oman', Human Heredity, vol. 46, no. 3, pp. 172-176.
Daar S, Vulliamy TJ, Kaeda J, Mason PJ, Luzzatto L. Molecular characterization of G6PD deficiency in Oman. Human Heredity. 1996 May;46(3):172-176.
Daar, Shahina ; Vulliamy, Tom J. ; Kaeda, Jaspal ; Mason, Philip J. ; Luzzatto, Lucio. / Molecular characterization of G6PD deficiency in Oman. In: Human Heredity. 1996 ; Vol. 46, No. 3. pp. 172-176.
@article{af9213866a574777a52d66c48dcab525,
title = "Molecular characterization of G6PD deficiency in Oman",
abstract = "Screening of unselected university students in the Sultanate of Oman revealed an overall frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency of 26{\%} in males. Samples from 23 G6PD-deficient individuals (a random sub-sample of the student population), were characterised biochemically and at the molecular level. Of 20 deficient men, 15 had G6PD Mediterranean, 2 had G6PD Chatham, 1 had G6PD A- and in 2 the mutation is not yet known. Of the 3 G6PD-deficient woman, 2 were homozygous for the G6PD Mediterranean mutation and 1 was a genetic compound, G6PD Mediterranean/G6PD A- (the first report of this genotype). Our findings establish that the G6PD Mediterranean mutation accounts for most cases of G6PD deficiency in Oman. The presence of G6PD A- at a polymorphic frequency can be regarded as evidence of significant gene flow from Africa.",
keywords = "G6PD deficiency, Omani population, Population study",
author = "Shahina Daar and Vulliamy, {Tom J.} and Jaspal Kaeda and Mason, {Philip J.} and Lucio Luzzatto",
year = "1996",
month = "5",
language = "English",
volume = "46",
pages = "172--176",
journal = "Human Heredity",
issn = "0001-5652",
publisher = "S. Karger AG",
number = "3",

}

TY - JOUR

T1 - Molecular characterization of G6PD deficiency in Oman

AU - Daar, Shahina

AU - Vulliamy, Tom J.

AU - Kaeda, Jaspal

AU - Mason, Philip J.

AU - Luzzatto, Lucio

PY - 1996/5

Y1 - 1996/5

N2 - Screening of unselected university students in the Sultanate of Oman revealed an overall frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency of 26% in males. Samples from 23 G6PD-deficient individuals (a random sub-sample of the student population), were characterised biochemically and at the molecular level. Of 20 deficient men, 15 had G6PD Mediterranean, 2 had G6PD Chatham, 1 had G6PD A- and in 2 the mutation is not yet known. Of the 3 G6PD-deficient woman, 2 were homozygous for the G6PD Mediterranean mutation and 1 was a genetic compound, G6PD Mediterranean/G6PD A- (the first report of this genotype). Our findings establish that the G6PD Mediterranean mutation accounts for most cases of G6PD deficiency in Oman. The presence of G6PD A- at a polymorphic frequency can be regarded as evidence of significant gene flow from Africa.

AB - Screening of unselected university students in the Sultanate of Oman revealed an overall frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency of 26% in males. Samples from 23 G6PD-deficient individuals (a random sub-sample of the student population), were characterised biochemically and at the molecular level. Of 20 deficient men, 15 had G6PD Mediterranean, 2 had G6PD Chatham, 1 had G6PD A- and in 2 the mutation is not yet known. Of the 3 G6PD-deficient woman, 2 were homozygous for the G6PD Mediterranean mutation and 1 was a genetic compound, G6PD Mediterranean/G6PD A- (the first report of this genotype). Our findings establish that the G6PD Mediterranean mutation accounts for most cases of G6PD deficiency in Oman. The presence of G6PD A- at a polymorphic frequency can be regarded as evidence of significant gene flow from Africa.

KW - G6PD deficiency

KW - Omani population

KW - Population study

UR - http://www.scopus.com/inward/record.url?scp=0029924661&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029924661&partnerID=8YFLogxK

M3 - Article

C2 - 8860013

AN - SCOPUS:0029924661

VL - 46

SP - 172

EP - 176

JO - Human Heredity

JF - Human Heredity

SN - 0001-5652

IS - 3

ER -