Detection of common mutations in the GALT gene through ARMS |
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Authors: | Umair Mahmood Muhammad Imran Salma Iqbal Naik Huma Arshad Cheema Anjum Saeed Muhammad Arshad Saqib Mahmood |
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Institution: | 1. Department of Biochemistry, University of Health Sciences (UHS), Khayaban-e-Jamia Punjab, Lahore 54600, Pakistan;2. Centre for Research in Endocrinology and Reproductive Sciences, Department of Physiology and Cell Biology, UHS;3. Department of Pediatric Gastroenterology and Hepatology, The Children''s Hospital & The Institute for Child Health, Lahore 54600, Pakistan;4. Department of Genetics and Molecular Biology, UHS |
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Abstract: | Type I galactosemia is an inborn error resulting from mutations on both alleles of the GALT gene, which leads to the absence or deficiency of galactose-1-phosphate uridyltranseferase (GALT), the second of three enzymes catalyzing the conversion of galactose into glucose. On the basis of residual GALT activity, Type I galactosemia is classified into severe “Classical” and mild “Duarte” phenotypes. Classical galactosemia is frequently associated with S135L, Q188R and K285N mutations in the GALT gene. The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and is widespread among various worldwide populations. The present study aimed at detecting S135L, Q188R and K285N mutations and the N314D variant in the GALT gene by PCR using amplification refractory mutation system (ARMS). ARMS assays were established using standard DNA samples and were used for 8 galactosemia patients and 190 unrelated normal subjects all of Pakistani origin. S135L and K285N mutations were present neither in galactosemia patients nor in normal subjects. Only one galactosemia patient carried Q188R mutation that was in homozygous state. However, the N314D variant was frequently found both in affected (7 out of 16 alleles) and normal subjects (55 out of 380 alleles). This finding indicates that Duarte allele D314 might be far more common in Pakistani population than in European and North American ones. |
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Keywords: | GALT gene Galactose-1-phosphate Uridyltranseferase gene ARMS Amplification refractory mutation system DNA Deoxyribonucleic acid PCR Polymerase chain reaction bp base pairs &ldquo G&rdquo allele Galactosemia allele &ldquo D1&rdquo allele Los Angeles allele &ldquo D2&rdquo allele Duarte galactosemia allele AST Aspartate Aminotransferase ALT Alanine Aminotransferase RFLP Restriction fragment length polymorphism SNP Single nucleotide polymorphism S Serine L Leucine Q Glutamine R Arginine K Lysine N Asparagine D Aspartic acid G Guanine T Thymine C Cytosine A Adenine |
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