학술논문
Identification of novel genetic variants in the mutational hotspot region 14 kb upstream of the LCT gene in a Mexican population.
Document Type
Academic Journal
Author
Valencia L; a Departamento de Nutrición Aplicada y Educación Nutricional , Instituto Nacional de Ciencias Médicas y Nutrición 'Salvador Zubirán' , Mexico City , Mexico.; Randazzo A; a Departamento de Nutrición Aplicada y Educación Nutricional , Instituto Nacional de Ciencias Médicas y Nutrición 'Salvador Zubirán' , Mexico City , Mexico.; Engfeldt P; b Faculty of Medicine and Health , Örebro University , Örebro , Sweden.; Olsson LA; b Faculty of Medicine and Health , Örebro University , Örebro , Sweden.; Chávez A; a Departamento de Nutrición Aplicada y Educación Nutricional , Instituto Nacional de Ciencias Médicas y Nutrición 'Salvador Zubirán' , Mexico City , Mexico.; Buckland RJ; c Department of Medical Biosciences/Clinical Chemistry, Faculty of Medicine , Umeå University , Umeå , Sweden.; Nilsson TK; c Department of Medical Biosciences/Clinical Chemistry, Faculty of Medicine , Umeå University , Umeå , Sweden.; Almon R; b Faculty of Medicine and Health , Örebro University , Örebro , Sweden.
Source
Publisher: Informa Healthcare Country of Publication: England NLM ID: 0404375 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1502-7686 (Electronic) Linking ISSN: 00365513 NLM ISO Abbreviation: Scand J Clin Lab Invest Subsets: MEDLINE
Subject
Language
English
Abstract
Several polymorphic loci linked to lactase persistence (LP) have been described, all located in a small mutational hotspot region far upstream (∼14 kb) 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 501 bp region spanning the LCT -13910C > T hotspot was successfully performed in 150 samples. The frequency of the European-type LCT -13910 T-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 -13910 T-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.