位于乳糖酶基因上游的单核苷酸多态性C/T（-13910）与成人型低乳糖酶症相关：临床实践验证
Single nucleotide polymorphism C/T(-13910), located upstream of the lactase gene, associated with adult-type hypolactasia: validation for clinical practice.
作者信息
Mattar Rejane, Monteiro Maria do Socorro, Villares Cibele Aparecida, dos Santos Aníbal Ferreira, Carrilho Flair José
机构信息
Department of Gastroenterology, University of São Paulo School of Medicine, São Paulo, SP, Brazil.
出版信息
Clin Biochem. 2008 May;41(7-8):628-30. doi: 10.1016/j.clinbiochem.2008.01.006. Epub 2008 Jan 16.
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.
目的
验证与原发性乳糖酶缺乏相关的C/T(-13910)多态性在临床实践中的应用价值。
设计与方法
进行乳糖呼气试验以及针对C/T(-13910)多态性的聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）。
结果
28例CC基因型患者中有27例呼气试验呈阳性；22例CT或TT基因型患者的呼气试验均为阴性。两种检测方法的一致性很高（p<0.0001；卡帕指数为0.96）。
结论
检测C/T(-13910)多态性可能成为原发性乳糖酶缺乏诊断的一种新工具。
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