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苯丙酮尿症(PKU)是一种严重的遗传性代谢病,病人由于苯丙氨酸羟化酶(PAH)基因缺陷,PAH缺乏,苯丙氨酸不能正常地进行代谢。PAH基因位于第12号染色体上,全长约100Kb,包括13个外显子和12个内含子,是迄今所研究的人类细胞中最复杂的基因之一。 1984年以来,上海市儿童医院医学遗传研究室从美国贝勒医学院胡流清教授处引进了人类PAHcDNA探针,并应用限制性内切酶酶切位点多态性分析技术,对50
Phenylketonuria (PKU) is a severe hereditary metabolic disease in which phenylalanine is not metabolized normally due to defects in phenylalanine hydroxylase (PAH) gene and PAH deficiency. The PAH gene is located on chromosome 12 and has a total length of about 100 kb, including 13 exons and 12 introns. It is one of the most complex human genes studied so far. Since 1984, the Shanghai Institute of Medical Genetics of Children’s Hospital from the United States Baylor College of Medicine Professor Hu Liuqing introduced human PAH cDNA probe, and restriction endonuclease restriction site polymorphism analysis of 50