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首页> 美国卫生研究院文献>American Journal of Human Genetics >Assignment of the locus for congenital lactase deficiency to 2q21 in the vicinity of but separate from the lactase-phlorizin hydrolase gene.
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Assignment of the locus for congenital lactase deficiency to 2q21 in the vicinity of but separate from the lactase-phlorizin hydrolase gene.

机译：将先天性乳糖酶缺乏症的基因位点分配到2q21在乳糖酶-lo菌素水解酶基因附近但与之分开。

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Congenital lactase deficiency (CLD) is an autosomal recessive, gastrointestinal disorder characterized by watery diarrhea starting during the first 1-10 d of life, in infants fed lactose-containing milks. Since 1966, 42 patients have been diagnosed in Finland. CLD is the most severe form of lactase deficiency, with an almost total lack of lactase-phlorizin hydrolase (LPH) activity on jejunal biopsy. In adult-type hypolactasia, the most common genetic enzyme deficiency in humans, this enzyme activity is reduced to 5%-10%. Although the activity of intestinal LPH has been found to be greatly reduced in both forms, the molecular pathogenesis of lactase deficiencies is unknown. On the basis of the initial candidate-gene approach, we assigned the CLD locus to an 8-cM interval on chromosome 2q21 in 19 Finnish families. At the closest marker locus, a specific allele 2 was present in 92% of disease alleles. On the basis of a genealogical study, the CLD mutation was found to be enriched in sparsely populated eastern and northern Finland, because of a founder effect. The results of both the genealogical study and the haplotype analysis indicate that one major mutation in a novel gene causes CLD in the Finnish population. Consequently, the critical region could be restricted further, to an approximately 350-kb interval, by ancient-haplotype and linkage-disequilibrium analyses. Surprisingly, the LPH gene was shown to lie outside the critical CLD region, excluding it as a causative gene for CLD. The LPH locus was found to reside >2 Mb from the critical CLD region.
机译：先天性乳糖酶缺乏症（CLD）是常染色体隐性胃肠道疾病，其特征是在喂食含乳糖牛奶的婴儿中，在生命的前1到10天开始出现水样腹泻。自1966年以来，芬兰已诊断出42例患者。 CLD是乳糖酶缺乏症的最严重形式，在空肠活检中几乎完全缺乏乳糖酶-Phrizrizin水解酶（LPH）活性。在成人型泌乳不足症中，这是人类最常见的遗传酶缺乏症，这种酶的活性降低到5％-10％。尽管已发现两种形式的肠道LPH的活性均大大降低，但乳糖酶缺乏症的分子发病机制尚不清楚。在最初的候选基因方法的基础上，我们将19个芬兰家庭的CLD基因座分配给了染色体2q21的8-cM区间。在最接近的标记位点，特定等位基因2存在于92％的疾病等位基因中。根据家谱研究，由于创始人的影响，发现CLD突变在人口稀少的东部和北部芬兰富集。家谱研究和单倍型分析的结果均表明，一个新基因的一个主要突变导致芬兰人群中的CLD。因此，通过古代单倍型和连锁不平衡分析，可以将关键区域进一步限制在大约350kb的间隔内。出乎意料的是，LPH基因显示为位于关键CLD区域之外，不包括CLD的致病基因。发现LPH基因座距关键CLD区> 2 Mb。

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