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Genetic testing of adult-type hypolactasia in present-day and ancient samples

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  • Anthropology
  • Biology
  • Physics


GENETIC TESTING OF ADULT-TYPE HYPOLACTASIA GENETIC TESTING OF ADULT-TYPE HYPOLACTASIA IN PRESENT -DAY AND ANCIENT SAMPLES Summary of Ph.D. thesis DÓRA NAGY M.D. Paediatric Department Faculty of Medicine of the University of Szeged Szeged, Hungary  2012  1 ABBREVIATIONS ATH adult-type hypolactasia bp base pair dCAPS derived cleaved amplified polymorphic sequence method dNTP deoxynucleotide-triphosphate EDTA ethylenediaminetetraacetic acid HBT hydrogen breath test HVSI hypervariable region I HVSII hypervariable region II kb kilo base LNP lactase non-persistence LP lactase persistence MCM6 minichromosome maintenance-6 gene mIPEP modified improved primer extension preamplification mtDNA mitochondrial DNA PCR polymerase chain reaction RFLP restriction fragment length polymorphism SNP single nucleotide polymorphism UV ultraviolet 2 INTRODUCTION Adult-type hypolactasia (ATH) also known as lactase non-persistence (LNP) is a common trait worldwide which varies in the prevalence and in the age of onset among populations both ethnically and geographically. The enzyme lactase on the apical surface of the brush border enterocytes facilitates lactose digestion in fresh milk. Its activity decreases after weaning in most humans, but persists in others. The lactase persistent (LP) phenotype is very frequent among Northern Europeans but declines towards the south and west. The trait is largely absent in Asians. It has been strongly associated with a single nucleotide polymorphism (SNP) 13910 base pairs (bp) upstream of the lactase gene in one of the introns of the MCM6 gene. The C/T-13910 polymorphism, as a cis-acting element, enhances the expression of the lactase gene. The CC-13910 genotype has been observed to be associated with

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