The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-02

AUTHORS

J M Flanagan, G McMahon, S H Brendan Chia, P Fitzpatrick, O Tighe, C O'Neill, P Briones, L Gort, L Kozak, A Magee, E Naughten, B Radomyska, M Schwartz, J S Shin, W M Strobl, L A Tyfield, H R Waterham, H Russell, G Bertorelle, J K V Reichardt, P D Mayne, D T Croke

ABSTRACT

Classical or transferase-deficient galactosaemia is an inherited metabolic disorder caused by mutation in the human Galactose-1-phosphate uridyl transferase (GALT) gene. Of some 170 causative mutations reported, fewer than 10% are observed in more than one geographic region or ethnic group. To better understand the population history of the common GALT mutations, we have established a haplotyping system for the GALT locus incorporating eight single nucleotide polymorphisms and three short tandem repeat markers. We analysed haplotypes associated with the three most frequent GALT gene mutations, Q188R, K285N and Duarte-2 (D2), and estimated their age. Haplotype diversity, in conjunction with measures of genetic diversity and of linkage disequilibrium, indicated that Q188R and K285N are European mutations. The Q188R mutation arose in central Europe within the last 20 000 years, with its observed east-west cline of increasing relative allele frequency possibly being due to population expansion during the re-colonization of Europe by Homo sapiens in the Mesolithic age. K285N was found to be a younger mutation that originated in Eastern Europe and is probably more geographically restricted as it arose after all major European population expansions. The D2 variant was found to be an ancient mutation that originated before the expansion of Homo sapiens out of Africa. More... »

PAGES

hdy200984

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hdy.2009.84

DOI

http://dx.doi.org/10.1038/hdy.2009.84

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1001986936

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19639008


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