Rasinpera Heli, Saarinen Kristiina, Pelkonen Anna, Jarvela Irma, Savilahti Erkki, Kolho Kaija-Leena
Department of Medical Genetics, University of Helsinki, Finland.
World J Gastroenterol. 2006 Apr 14;12(14):2264-8. doi: 10.3748/wjg.v12.i14.2264.
To assess the role of lactase non-persistence/persistence in school-aged children and their milk-related symptoms.
The genotypes for the C/T(-13910) variant associated with lactase non-persistence/ persistence were determined using PCR-minisequencing in a group of 172 children with a mean age of 8.6 years (SE = 0.02, 93 boys) participating in a follow-up study for cow's milk allergy. The parents were asked to assess their children's milk consumption and abdominal symptoms.
The presence of allergy to cow's milk was not associated with the C/C(-13910) genotype related with a decline of lactase enzyme activity during childhood (lactase non-persistence). The frequency of the C/C(-13910) genotype (16%) was similar to published figures for the prevalence of adult-type hypolactasia in Finland. The majority of the children (90%) in this series consumed milk but 26% of their families suspected that their children had milk-related symptoms. Forty-eight percent of the children with the C/C(-13910) genotype did not drink milk at all or consumed a low lactose containing diet prior to the genotyping (P < 0.004 when compared to the other genotypes).
Analysis of the C/T(-13910) polymorphism is an easy and reliable method for excluding adult-type hypolactasia in children with milk-related symptoms. Genotyping for this variant can be used to advise diets for children with a previous history of cow's milk allergy.
评估乳糖酶不持续性/持续性在学龄儿童及其与牛奶相关症状中的作用。
在一组平均年龄8.6岁(标准误 = 0.02,93名男孩)参与牛奶过敏随访研究的172名儿童中,采用聚合酶链反应 - 微测序法测定与乳糖酶不持续性/持续性相关的C/T(-13910)变体的基因型。要求家长评估孩子的牛奶摄入量和腹部症状。
对牛奶过敏的存在与童年期乳糖酶活性下降相关的C/C(-13910)基因型(乳糖酶不持续性)无关。C/C(-13910)基因型的频率(16%)与芬兰已发表的成人型乳糖酶缺乏症患病率数据相似。该系列中的大多数儿童(90%)饮用牛奶,但26%的家庭怀疑他们的孩子有与牛奶相关的症状。48%具有C/C(-13910)基因型的儿童在基因分型前根本不喝牛奶或食用低乳糖饮食(与其他基因型相比,P < 0.004)。
分析C/T(-13910)多态性是排除有与牛奶相关症状儿童成人型乳糖酶缺乏症的一种简单可靠的方法。对该变体进行基因分型可用于为有牛奶过敏既往史的儿童提供饮食建议。