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Identification of novel genetic variants in the mutational hotspot region 14kb upstream of the LCT gene in a Mexican population
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2017 (English)In: Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, E-ISSN 1502-7686, Vol. 77, no 5, 311-314 p.Article in journal (Refereed) Published
Abstract [en]

Several polymorphic loci linked to lactase persistence (LP) have been described, all located in a small mutational hotspot region far upstream (approximate to 14kb) of the lactase (LCT) gene. One is typically found in Europeans, LCT -13910C>T, several others are found in East Africans and Arabs, e.g. LCT -13907C>G and LCT -13915T>G. The possibility of similar loci, specific to populations in South and Central America, has not received much attention so far. To identify possible novel polymorphisms in the mutational hotspot region, we sampled 158 subjects from a rural area in South-Central Mexico. DNA was isolated from serum, and Sanger sequencing of a 501bp region spanning the LCT -13910C>T hotspot was successfully performed in 150 samples. The frequency of the European-type LCT -13910T-allele was q=0.202, and 35% of the population was thus lactase-persistent (CT or TT). Sixteen novel genetic variants were found amongst 11 of the subjects, all were heterozygotes: seven of the subjects were also carriers of at least one LCT -13910T-allele. Thus, the mutational hotspot region is also a hotspot in the rural Mexican population: 11/150 subjects carried a total of 16 previously unknown private mutations but no novel polymorphism was found. The relationship between such novel genetic variants in Mexicans and lactase persistence is worthy of more investigation.

Place, publisher, year, edition, pages
TAYLOR & FRANCIS LTD , 2017. Vol. 77, no 5, 311-314 p.
Keyword [en]
Adult hypolactasia, DNA resequencing, lactose intolerance, lactase persistence, Latin America, SNP
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:umu:diva-138619DOI: 10.1080/00365513.2017.1318445ISI: 000406760700001OAI: oai:DiVA.org:umu-138619DiVA: diva2:1138716
Available from: 2017-09-06 Created: 2017-09-06 Last updated: 2017-09-06Bibliographically approved

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Buckland, Robert J.Nilsson, Torbjörn K.
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CiteExportLink to record
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Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
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  • de-DE
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More languages
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