a worldwide correlation of lactase persistence phenotype and genotypes世界范围内的乳糖耐受性相关的表型和基因型.pdfVIP

Itan et al. BMC Evolutionary Biology 2010, 10:36 /1471-2148/10/36 RESEARCH ARTICLE Open Access A worldwide correlation of lactase persistence phenotype and genotypes 1,2* 1 1 1 1,2,3 Yuval Itan , Bryony L Jones , Catherine JE Ingram , Dallas M Swallow , Mark G Thomas Abstract Background: The ability of adult humans to digest the milk sugar lactose - lactase persistence - is a dominant Mendelian trait that has been a subject of extensive genetic, medical and evolutionary research. Lactase persistence is common in people of European ancestry as well as some African, Middle Eastern and Southern Asian groups, but is rare or absent elsewhere in the world. The recent identification of independent nucleotide changes that are strongly associated with lactase persistence in different populations worldwide has led to the possibility of genetic tests for the trait. However, it is highly unlikely that all lactase persistence-associated variants are known. Using an extensive database of lactase persistence phenotype frequencies, together with information on how those data were collected and data on the frequencies of lactase persistence variants, we present a global summary of the extent to which current genetic knowledge can explain lactase persistence phenotype frequency. Results: We used surface interpolation of Old World lactase persistence genotype and phenotype frequency estimates obtained from all available literature and perform a comparison between predicted and observed trait frequencies in continuous space. By accommodating additional data on sample numbers and known false negative and false positive rates for the various lactase persistence phenotype tests (blood glucose and breath hydrogen), we also apply a Mont