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A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?
A cohort study of lactose digester and non-digester Sudanese volunteers shows there is no association of -13910*T or the A haplotype with lactase persistence, and reveals the complexity of this phenotypic polymorphism and highlights the limitations of C-13910T as a diagnostic test for lact enzyme persistence status, at least for people with non-European ancestry.
Lactose digestion and the evolutionary genetics of lactase persistence
Access is provided to a database of worldwide distributions of lactase persistence and of the C-13910*T allele, as well as reviewing lactase molecular and population genetics and the role of selection in determining present day distributions of the lactases persistence phenotype.
A worldwide correlation of lactase persistence phenotype and genotypes
- Y. Itan, B. L. Jones, C. Ingram, D. Swallow, Mark George Thomas
- BiologyBMC Evolutionary Biology
- 9 February 2010
Lactase persistence genotype data is currently insufficient to explain lactase persistence phenotype frequency in much of western and southern Africa, southeastern Europe, the Middle East and parts of central and southern Asia, and it is suggested that further studies of genetic variation in these regions should reveal additional nucleotide variants that are associated with lactases persistence.
Multiple Rare Variants as a Cause of a Common Phenotype: Several Different Lactase Persistence Associated Alleles in a Single Ethnic Group
A cohort of 107 milk-drinking Somali camel-herders from Ethiopia is examined, showing that increased diversity can accompany selection, and contrasts with the well-documented observation that positive selection decreases diversity by driving up the frequency of a single advantageous allele.
Evaluation of a novel reverse-hybridization StripAssay for typing DNA variants useful in diagnosis of adult-type hypolactasia.
Pitfalls in LightCycler diagnosis of the single-nucleotide polymorphism 13.9 kb upstream of the lactase gene that is associated with adult-type hypolactasia.
Population Genetics of Lactase Persistence and Lactose Intolerance
The phenotypic polymorphism and the evidence that the genetic trait involves regulation of expression of the lactase gene and is caused by multiple independent mutations that have reached high frequencies in different populations, because of the benefits of drinking milk are described.
Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis
It is unlikely that common, shared genetic variants in the mitochondrial genome contribute substantially to ALS, using an economic and efficient method to test whether such involvement is probable.
Common Inherited Mitochondrial Dna Mutations and Nucleoside Reverse Transcriptase Inhibitor-Induced Severe Hyperlactataemia in HIV-Infected Adults: An Exploratory Study
The data do not support the existence of non-synonymous mtDNA mutations that explain an increased predisposition to dideoxynucleoside-induced mitochondrial dysfunction, and an association between homoplasmic inherited mtDNA polymorphisms and severe hyperlactataemia is found.
The evolutionary genetics of lactase persistence in Africa and the Middle East
- C. Ingram
The occurrence of only one -13910*T carrier out of 45 lactase persistent people from a cohort of phenotyped Sudanese individuals provided confirmation that the allele is not causal worldwide, and the cluster of lactase persistence associated alleles within a single regulatory element implies that they are causal.