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Original Paper

Molecular Characterisation of Red Cell Glucose-6-Phosphate Dehydrogenase Deficiency in North-West Pakistan

Saha N.a · Ramzan M.b · Tay J.S.H.a · Low R.S.a · Basair J.B.a · Khan F.M.b

Author affiliations

aDivision of Human Genetics, Department of Paediatrics, National University of Singapore, and bDepartment of Paediatrics Lady Reading Hospital, Peshawar, Pakistan

Related Articles for ""

Hum Hered 1994;44:85–89

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 27, 1993
Accepted: August 30, 1993
Published online: September 03, 2008
Issue release date: 1994

Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE

Abstract

233 Pushtoons (129 males and 104 females), 51 Punjabi Muslims (29 males and 22 females) and 21 Afghans (15 males and 6 females) were screened for the presence of red cell glucose-6-phosphate dehydrogenase (G6PD) variants by a dye decolouration screening test and starch gel electrophoresis. The overall frequency of G6PD deficiency in males was found to be about 10%. 17 male G6PD-deficient samples were further investigated for the C→T substitution at nucleotide (nt) 563 (the Mediterranean mutation) and the C→T substitution at nt 1311 (the ‘silent’ allele) of the G6PD gene by PCR amplification followed by digestion with appropriate restriction enzymes. 10 of the 13 Pushtoon, 2 Punjabi and 1 Afghan males had the 563 mutations. Only 1 (Punjabi) out of 13 G6PD-deficient males with the 563 mutation had the silent mutation at nt 1311. The frequency of the silent mutation was found to be about 0.20 in the 60 Pushtoon and 19 Punjabi non-deficient males.

© 1994 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 27, 1993
Accepted: August 30, 1993
Published online: September 03, 2008
Issue release date: 1994

Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 0

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE


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