The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population Export

@article{Imtiaz2007a, abstract = {Background: The prevalence of lactase persistence is high in Saudi Arabia. Objective: To identify a DNA variant for the lactase persistence/non-persistence trait in adult Arabs in Saudi Arabia. Methods: We sequenced DNA from 432 anonymous neonatal blood donors from five different regions of Saudi Arabia to cover the 400 bp region surrounding the previously identified lactase persistence/non-persistence variant C/T13910 residing in intron 13 of the MCM6 gene. Results: Two anonymous blood donors carried the C/T13910 genotype. One variant, T/G 13915, residing 5 bp upstream of the C/T13910 variant, was present in 332 of 432 (76.9\%) of the neonatal samples, compatible with previous prevalence figures of lactase persistence in urban Saudi populations. Determination of disaccharidase activities in 25 intestinal biopsy samples showed a highly significant correlation between lactase activity and the T/G13915 genotypes (p<0.001; Fisher exact test) as well as between the L:S ratio and the aforementioned genotypes (p<0.001; Fisher exact test). Conclusion: The T/G13915 variant is the founder mutation of lactase persistence in an urban Saudi population. The results obtained here have implications for genetic testing of adult-type hypolactasia and to analysis of human evolution, the origin of cattle domestication and migrations of the populations in the Arabian peninsula. 10.1136/jmg.2007.051631}, author = {Imtiaz, F. and Savilahti, E. and Sarnesto, A. and Trabzuni, D. and Al-Kahtani, K. and Kagevi and Rashed, M. S. and Meyer, B. F. and Jarvela}, citeulike-article-id = {1745490}, citeulike-linkout-0 = {http://dx.doi.org/10.1136/jmg.2007.051631}, citeulike-linkout-1 = {http://jmg.bmj.com/cgi/content/abstract/44/10/e89}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/17911653}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=17911653}, doi = {10.1136/jmg.2007.051631}, journal = {J Med Genet}, keywords = {allele-frequency-spectrum, lactase, saudi-arabia, selection, to-review}, month = {October}, number = {10}, pages = {e89+}, posted-at = {2007-10-09 13:30:00}, priority = {2}, title = {The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population}, url = {http://dx.doi.org/10.1136/jmg.2007.051631}, volume = {44}, year = {2007} }

TY - JOUR ID - Imtiaz2007a L3 - citeulike-article-id:1745490 N2 - Background: The prevalence of lactase persistence is high in Saudi Arabia. Objective: To identify a DNA variant for the lactase persistence/non-persistence trait in adult Arabs in Saudi Arabia. Methods: We sequenced DNA from 432 anonymous neonatal blood donors from five different regions of Saudi Arabia to cover the 400 bp region surrounding the previously identified lactase persistence/non-persistence variant C/T13910 residing in intron 13 of the MCM6 gene. Results: Two anonymous blood donors carried the C/T13910 genotype. One variant, T/G 13915, residing 5 bp upstream of the C/T13910 variant, was present in 332 of 432 (76.9%) of the neonatal samples, compatible with previous prevalence figures of lactase persistence in urban Saudi populations. Determination of disaccharidase activities in 25 intestinal biopsy samples showed a highly significant correlation between lactase activity and the T/G13915 genotypes (p<0.001; Fisher exact test) as well as between the L:S ratio and the aforementioned genotypes (p<0.001; Fisher exact test). Conclusion: The T/G13915 variant is the founder mutation of lactase persistence in an urban Saudi population. The results obtained here have implications for genetic testing of adult-type hypolactasia and to analysis of human evolution, the origin of cattle domestication and migrations of the populations in the Arabian peninsula. 10.1136/jmg.2007.051631 IS - 10 JF - J Med Genet TI - The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population VL - 44 SP - e89 KW - allele-frequency-spectrum KW - lactase KW - saudi-arabia KW - selection KW - to-review AU - Imtiaz, F AU - Savilahti, E AU - Sarnesto, A AU - Trabzuni, D AU - Al-Kahtani, K AU - Kagevi AU - Rashed, MS AU - Meyer, BF AU - Jarvela PY - 2007/10/01/ UR - http://dx.doi.org/10.1136/jmg.2007.051631 ER -