Single nucleotide polymorphism C/T-13910, located upstream of the lactase gene, associated with adult-type hypolactasia:: Validation for clinical practice

被引：31

作者：

Mattar, Rejane ^{[1
]}

Monteiro, Maria do Socorro ^{[1
]}

Villares, Cibele Aparecida ^{[1
]}

dos Santos, Anibal Ferreira ^{[1
]}

Carrilho, Flair Jose ^{[1
]}

机构：

[1] Univ Sao Paulo, Sch Med, Dept Gastroenterol, Sao Paulo, SP, Brazil

来源：

CLINICAL BIOCHEMISTRY | 2008年 / 41卷 / 7-8期

关键词：

hypolactasia; lactase persistence; lactose malabsorption; single nucleotide polymorphism; hydrogen breath test;

D O I：

10.1016/j.clinbiochem.2008.01.006

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Objectives: To validate C/T-13910 polymorphism associated with primary hypolactasia for clinical practice. Design and methods: Lactose breath test and PCR-RFLP for the C/T-13910 polymorphism were performed. Results: Twenty-seven of 28 patients with genotype CC had positive breath tests, all twenty-two patients with genotypes CT or TT had negative breath tests. Agreement of tests was high (p<0.0001; Kappa Index 0.96). Conclusion: C/T-13910 polymorphism detection may be a new tool for primary hypolactasia diagnosis. (C) 2008 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

引用

页码：628 / 630

页数：3

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