Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli

F. Amini, Endom Ismail, B. A. Zilfalil

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

This study aims to define the prevalence and the molecular basis of G6PD deficiency in the Negrito tribe of the Malaysian Orang Asli. Four hundred and eighty seven consenting Negrito volunteers were screened for G6PD deficiency through the use of a fluorescent spot test. DNA from deficient individuals underwent PCR-RFLP analysis using thirteen recognized G6PD mutations. In the instances when the mutation could not be identified by PCR-RFLP, the entire coding region of the G6PD gene was subjected to DNA sequencing. In total, 9% (44/486) of the sample were found to be G6PD-deficient. However, only 25 samples were subjected to PCR-RFLP and DNA sequencing. Of these, three were found to carry Viangchan, one Coimbra and 16, a combination of C1311T in exon 11 and IVS11 T93C. Mutation(s) for the five remaining samples are unknown. The mean G6PD enzyme activity ranged 5.7IU/gHb in deficient individuals. Our results demonstrate that the frequency of G6PD deficiency is higher among the Negrito Orang Asli than other Malaysian races. The dual presence of C1311T and IVS11 T93C in 64% of the deficient individuals (16/44) could well be a result of genetic drift within this isolated group.

Original languageEnglish
Pages (from-to)351-353
Number of pages3
JournalInternal Medicine Journal
Volume41
Issue number4
DOIs
Publication statusPublished - Apr 2011

Fingerprint

Glucosephosphate Dehydrogenase Deficiency
Restriction Fragment Length Polymorphisms
Cross-Sectional Studies
DNA Sequence Analysis
Polymerase Chain Reaction
Mutation
Genetic Drift
Population Groups
Volunteers
Exons
DNA
Enzymes
Genes

Keywords

  • G6PD
  • Mutation
  • Negrito
  • Orang Asli
  • Prevalence

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli. / Amini, F.; Ismail, Endom; Zilfalil, B. A.

In: Internal Medicine Journal, Vol. 41, No. 4, 04.2011, p. 351-353.

Research output: Contribution to journalArticle

@article{8210a63dbbdd476399d777c0183866af,
title = "Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli",
abstract = "This study aims to define the prevalence and the molecular basis of G6PD deficiency in the Negrito tribe of the Malaysian Orang Asli. Four hundred and eighty seven consenting Negrito volunteers were screened for G6PD deficiency through the use of a fluorescent spot test. DNA from deficient individuals underwent PCR-RFLP analysis using thirteen recognized G6PD mutations. In the instances when the mutation could not be identified by PCR-RFLP, the entire coding region of the G6PD gene was subjected to DNA sequencing. In total, 9{\%} (44/486) of the sample were found to be G6PD-deficient. However, only 25 samples were subjected to PCR-RFLP and DNA sequencing. Of these, three were found to carry Viangchan, one Coimbra and 16, a combination of C1311T in exon 11 and IVS11 T93C. Mutation(s) for the five remaining samples are unknown. The mean G6PD enzyme activity ranged 5.7IU/gHb in deficient individuals. Our results demonstrate that the frequency of G6PD deficiency is higher among the Negrito Orang Asli than other Malaysian races. The dual presence of C1311T and IVS11 T93C in 64{\%} of the deficient individuals (16/44) could well be a result of genetic drift within this isolated group.",
keywords = "G6PD, Mutation, Negrito, Orang Asli, Prevalence",
author = "F. Amini and Endom Ismail and Zilfalil, {B. A.}",
year = "2011",
month = "4",
doi = "10.1111/j.1445-5994.2011.02456.x",
language = "English",
volume = "41",
pages = "351--353",
journal = "Internal Medicine Journal",
issn = "1444-0903",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli

AU - Amini, F.

AU - Ismail, Endom

AU - Zilfalil, B. A.

PY - 2011/4

Y1 - 2011/4

N2 - This study aims to define the prevalence and the molecular basis of G6PD deficiency in the Negrito tribe of the Malaysian Orang Asli. Four hundred and eighty seven consenting Negrito volunteers were screened for G6PD deficiency through the use of a fluorescent spot test. DNA from deficient individuals underwent PCR-RFLP analysis using thirteen recognized G6PD mutations. In the instances when the mutation could not be identified by PCR-RFLP, the entire coding region of the G6PD gene was subjected to DNA sequencing. In total, 9% (44/486) of the sample were found to be G6PD-deficient. However, only 25 samples were subjected to PCR-RFLP and DNA sequencing. Of these, three were found to carry Viangchan, one Coimbra and 16, a combination of C1311T in exon 11 and IVS11 T93C. Mutation(s) for the five remaining samples are unknown. The mean G6PD enzyme activity ranged 5.7IU/gHb in deficient individuals. Our results demonstrate that the frequency of G6PD deficiency is higher among the Negrito Orang Asli than other Malaysian races. The dual presence of C1311T and IVS11 T93C in 64% of the deficient individuals (16/44) could well be a result of genetic drift within this isolated group.

AB - This study aims to define the prevalence and the molecular basis of G6PD deficiency in the Negrito tribe of the Malaysian Orang Asli. Four hundred and eighty seven consenting Negrito volunteers were screened for G6PD deficiency through the use of a fluorescent spot test. DNA from deficient individuals underwent PCR-RFLP analysis using thirteen recognized G6PD mutations. In the instances when the mutation could not be identified by PCR-RFLP, the entire coding region of the G6PD gene was subjected to DNA sequencing. In total, 9% (44/486) of the sample were found to be G6PD-deficient. However, only 25 samples were subjected to PCR-RFLP and DNA sequencing. Of these, three were found to carry Viangchan, one Coimbra and 16, a combination of C1311T in exon 11 and IVS11 T93C. Mutation(s) for the five remaining samples are unknown. The mean G6PD enzyme activity ranged 5.7IU/gHb in deficient individuals. Our results demonstrate that the frequency of G6PD deficiency is higher among the Negrito Orang Asli than other Malaysian races. The dual presence of C1311T and IVS11 T93C in 64% of the deficient individuals (16/44) could well be a result of genetic drift within this isolated group.

KW - G6PD

KW - Mutation

KW - Negrito

KW - Orang Asli

KW - Prevalence

UR - http://www.scopus.com/inward/record.url?scp=79955039586&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79955039586&partnerID=8YFLogxK

U2 - 10.1111/j.1445-5994.2011.02456.x

DO - 10.1111/j.1445-5994.2011.02456.x

M3 - Article

C2 - 21507164

AN - SCOPUS:79955039586

VL - 41

SP - 351

EP - 353

JO - Internal Medicine Journal

JF - Internal Medicine Journal

SN - 1444-0903

IS - 4

ER -