Comparison of lactase persistence polymorphism in ancient and present-day Hungarian populations // American Journal of Physical Anthropology, Article first published online: 1 MAR 2011 DOI: 10.1002/ajpa.21490
Nagy et al.
The prevalence of adult-type hypolactasia varies ethnically and geographically among populations. A C/T–13910 single nucleotide polymorphism (SNP) upstream of the lactase gene is known to be associated with lactase non-persistence in Europeans. The aim of this study was to determine the prevalence of lactase persistent and non-persistent genotypes in current Hungarian-speaking populations and in ancient bone samples of classical conquerors and commoners from the
10th–11th centuries from the Carpathian basin; 181 present-day Hungarian, 65 present-day Sekler, and
23 ancient samples were successfully genotyped for the C/T-13910 SNP by the dCAPS PCR-RFLP method. Additional mitochondrial DNA testing was also carried out. In ancient Hungarians, the T-13910 allele was present only in 11% of the population, and exclusively in commoners of European mitochondrial haplogroups who may have been of pre-Hungarian indigenous ancestry. This is despite animal domestication and dairy products having been introduced into the Carpathian basin early in the Neolithic Age. This anomaly may be explained by the Hungarian use of fermented milk products, their greater consumption of ruminant meat than milk, cultural differences, or by their having other lactase-regulating genetic polymorphisms than C/T-13910. The low prevalence of lactase persistence provides additional information on the Asian origin of Hungarians. Present-day Hungarians have been assimilated with the surrounding European populations, since they do not differ significantly from the neighboring populations in their possession of mtDNA and C/T-13910 variants.
http://onlinelibrary.wiley.com/doi/10.1002/ajpa.21490/abstract genotype Haplogroup Mutations in HVSI Mutations in HVSII and coding region
1 CC U4 356C 12308G
2 CC N1a 147A 172C 183C 189C 223T 248T 320T 355T +10238HphI
3 CC J2 069T 093C 126C 193T 265T +10871MnlI
4 CCb U 259A 311C -73ApaLI, +7025AluI, 12308G, +14766MseI
5 CC HV 311C -73ApaLI, -14766MseI, +7025AluI
6 CC R CRS +73ApaLI -7025AluI 11719A 12308A +14766MseI
7 CCb H 093C 221T -73ApaLI, -7025AluI
8 CC T3 126C 248T 292T 294T 10873T
9 CC H 294T 304C -73ApaLI, -7025AluI, -14766MseI, 10310G
10 CCb H 189C 295T -73ApaLI, -7025AluI, 12308A, -14766MseI
11 TT H CRS -73ApaLI, -7025AluI, -14766MseI
12 CT H 093C 366T -73ApaLI, -7025AluI, -14766MseI
13 CC M 223T 311C 10400T
14 CC T2 126C 148T 218T 294T 304C
15 CC N1a 147A 172C 183C 189C 223T 320T 355T +10238HphI
16 CC H CRS -73ApaLI, -7025AluI, +14766MseI
17 CC X 183C 189C 223T 278T +10871MnlI, 14470C
18 CC T 126C 182C 183C 189C 294T 296T 298C 9 bp del
19 CC U4 223T 356C 10400C 12308G 12705C
20 CC JT 126C 163G 186T 189C +10871MnlI
21 TT H CRS -73ApaLI, -7025AluI, +14766MseI
22 CC U5a1 114A 192T 256T 270T 294T 12308G
23 CC U3 311C 343G 12308G