oru.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Identification of novel genetic variants in the mutational hotspot region 14kb upstream of the LCT gene in a Mexican population
Departamento de Nutrición Aplicada y Educación Nutricional, Instituto Nacional de Ciencias Médicas y Nutrición 'Salvador Zubiran’ , Mexico City, Mexico.
Departamento de Nutrición Aplicada y Educación Nutricional, Instituto Nacional de Ciencias Médicas y Nutrición 'Salvador Zubiran’ , Mexico City, Mexico.
Örebro University, School of Medical Sciences.ORCID iD: 0000-0001-8828-9299
Örebro University, School of Health Sciences. Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Show others and affiliations
2017 (English)In: Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, E-ISSN 1502-7686, Vol. 77, no 5, p. 311-314Article 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, 2017. Vol. 77, no 5, p. 311-314
Keywords [en]
Adult hypolactasia, DNA resequencing, lactose intolerance, lactase persistence, Latin America, SNP
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:oru:diva-59323DOI: 10.1080/00365513.2017.1318445ISI: 000406760700001Scopus ID: 2-s2.0-85018172237OAI: oai:DiVA.org:oru-59323DiVA, id: diva2:1135841
Note

Funding Agencies:

Research Committee of Örebro County Council  

Nyckelfonden Örebro

Available from: 2017-08-24 Created: 2017-08-24 Last updated: 2018-01-13Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textScopus

Authority records BETA

Engfeldt, Peter

Search in DiVA

By author/editor
Engfeldt, Peter
By organisation
School of Medical SciencesSchool of Health Sciences
In the same journal
Scandinavian Journal of Clinical and Laboratory Investigation
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar

doi
urn-nbn

Altmetric score

doi
urn-nbn
Total: 106 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf