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用于诊断儿童原发性乳糖酶缺乏症的基因检测方法
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作者 Rasinper H. savilahti e. +2 位作者 enattah N.S. K.-L. Kolho 雒向宁 《世界核心医学期刊文摘(胃肠病学分册)》 2005年第4期33-34,共2页
Background/Aims: Adult-type hypolactasia (primary lactose malabsorption) affects most of world’s human population and limits the use of fresh milk due to lactose intolerance. The diagnosis of adult-type hypolactasia ... Background/Aims: Adult-type hypolactasia (primary lactose malabsorption) affects most of world’s human population and limits the use of fresh milk due to lactose intolerance. The diagnosis of adult-type hypolactasia has been difficult to establish because of unsatisfactory diagnostic methods. C/T 13910 single nucleotide polymorphism residing 13910 base pairs from the 5′end of the lactase gene has been shown to be associated with lactase persistence. The aim of the study was to assess the applicability of the C/T-13910 variant as a diagnostic test for adult-type hypolactasia during childhood. Methods: Intestinal biopsies were obtained from 329 children and adolescents of African, Finnish, and other White origins aged 0.1-20 years undergoing upper gastrointestinal endoscopy because of abdominal complaints. The biopsies were assayed for lactase, sucrase, and maltase activity and genotyped for the C/T-13910 variant using polymerase chain reaction minisequencing. Results: The frequency of the C/C-13910 genotype defining lactase non-persistence was well in agreement in this study with published figures for the prevalences of adult-type hypolactasia in Africans and Whites. The C/C-13910 genotype was associated with very low lactase activity (<10 U/g protein) in the majority of children tested at 8 years of age and in every child older than 12 years of age giving a specificity of 100% and sensitivity of 93% for the genetic test. The decline of lactase activity was somewhat earlier in African compared with Finnish children with C/C -13910 genotype (p < 0.03). Conclu sions: Genetic test of C/T -13910 polymorphism can be used as a first stage scr eening test for adult-type hypolactasia. 展开更多
关键词 儿童原发性 缺乏症 乳糖酶基因 乳糖不耐受 吸收障碍 肠组织活检 消化道内镜检查 碱基对 性衰退 变异体
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母亲在妊娠期和哺乳期对牛奶制品的摄入量与子女牛乳抗体形成之间的关系
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作者 erkkola M. Kronberg-Kippil C. +2 位作者 savilahti e. S.M. Virtanen 李开 《世界核心医学期刊文摘(儿科学分册)》 2005年第10期29-30,共2页
Objective: To assess whether the maternal consumption of milk and milk product s affects development of cow’s milk (CM) antibodies in infants. Design: A rando mized pilot trial using food frequency questionnaires (mo... Objective: To assess whether the maternal consumption of milk and milk product s affects development of cow’s milk (CM) antibodies in infants. Design: A rando mized pilot trial using food frequency questionnaires (mothers) and food records (infants). Setting: Families with a newborn infant with increased HLA-DQB1-co nferred risk of type 1 diabetes and at least one first-degree relative affected by type 1 diabetes from 16 hospitals in Finland between April 1995 and November 1997. Subjects and intervention: Infants randomized to receive a hydrolysed for mula when breast milk was not available during their first 6-8 mo (n = 112). Of these, 13 dropped out by the age of 3 mo and two were excluded due to incomplet e CM antibody data. Results: Maternal milk protein intake from cheese during pre gnancy was inversely related to IgA-class antibody titres to beta-lactoglobuli n (BLG) and casein (CAS) at 3 mo, and to IgA antibody titres to BLG at 6 mo. Mat ernal consumption of raw milk products during lactation was positively related t o the development of IgA antibody titres to CAS at 6 mo, and inversely correlate d to IgG antibody titres to bovine serum albumin (BSA) and IgA antibody titres t o CAS at 2 y. Maternal cheese consumption was inversely related to the IgG antib ody titres to CM formula and CAS and to the IgA antibody titres to CAS in early infancy. Conclusions: Few associations were established between maternal CM prot ein intake and CM protein antibody levels in the infants. The milk and milk prod ucts taken by the mother differed in their impact on the emerging CM antibody re sponse in the offspring. 展开更多
关键词 抗体形成 牛奶制品 饮食状况 抗体滴度 Β-乳球蛋白 牛血清蛋白 母乳喂养 蛋白抗体 随机控制 抗体反应
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