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乳糖酶缺乏(lactase deficiency,LD)是个世界性问题,LD会造成乳糖吸收不良,对人类的健康造成很大的威胁。原发性乳糖酶缺乏(adult-type hypolactasia,ATH)是最常见的类型,属于常染色体隐性遗传,但ATH中乳糖酶活性下降的遗传及调节机尚不明确。目前研究发现:-13910C/T、-14010G/C、-22018G/A等突变点与ATH发生相关;Oct-1、Cdx2、GATA-4,-5,6、HNF-1等因子参与乳糖酶活性的调节。
Lactase deficiency (LD) is a worldwide problem, and LD can cause malabsorption of lactose, posing a great threat to human health. The most common type of adult-type hypolactasia (ATH) belongs to autosomal recessive inheritance. However, the genetic and regulatory mechanism of decreased lactase activity in ATH remains unclear. The present study found that -13910C / T, -14010G / C, -22018G / A and other mutations associated with ATH; Oct-1, Cdx2, GATA-4, -5,6, HNF-1 and other factors involved in lactase activity Adjustment.