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Molecular characterisation of red cell glucose-6-phosphate dehydrogenase deficiency in north-west Pakistan
Insights
Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects approximately 10% of males in the studied Pushtoon, Punjabi, and Afghan populations. The Mediterranean mutation (nt 563) is prevalent, with a low frequency of the silent G6PD allele (nt 1311).
Area of Science:
- Genetics
- Biochemistry
- Population Health
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited red blood cell disorder.
- Understanding the prevalence and genetic variants of G6PD deficiency is crucial for public health initiatives.
Purpose of the Study:
- To determine the frequency of G6PD deficiency and specific G6PD gene mutations in Pushtoon, Punjabi Muslim, and Afghan populations.
- To investigate the prevalence of the G6PD Mediterranean mutation (C-->T at nt 563) and the silent allele (C-->T at nt 1311).
Main Methods:
- Screening for G6PD deficiency using a dye decolouration test and starch gel electrophoresis.
- Genotyping for specific G6PD mutations (nt 563 and nt 1311) via PCR amplification and restriction enzyme digestion.
Main Results:
- Overall G6PD deficiency frequency was approximately 10% in males.
- The G6PD Mediterranean mutation (nt 563) was identified in 10/13 Pushtoon, 2/13 Punjabi, and 1/13 Afghan G6PD-deficient males.
- The silent G6PD allele (nt 1311) was found in only one Punjabi male with the nt 563 mutation; its frequency was ~0.20 in non-deficient Pushtoon and Punjabi males.
Conclusions:
- G6PD deficiency is common in these Central Asian populations, with the Mediterranean mutation being a significant contributor.
- The silent G6PD allele is rare in the studied groups.
- Further research into G6PD variants and their clinical implications in these populations is warranted.
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.