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典型苯酮尿症(PKU)是人体中一种常染色体隐性遗传病。患者肝脏中苯丙氨酸径化酶(PH)的活性不及正常人的1％,因而不能把苯丙氨酸转变成酪氨酸.临床表现为严重的智力低下.用大鼠PH的cDNA克隆为杂交探针、质粒pBR322为载体,从人体肝脏的CDNA库中筛选得人的PHcDNA(部分DNA序列分析表明两者同源性约为90％).其中人体DNA片段插入最多的两个重组体为phPH72和phPH73。作者从两例PKU患者的成纤维细胞和两例正常人淋巴细胞取出染色体DNA,经10种以上限制酶消化后,用phPH72和phPH73的cDNA为探针进行Southern杂交.结果表明患者细胞中PH基因照常
Typical phenylketonuria (PKU) is an autosomal recessive disease in the human body. Patients with liver phenylalanine sirtuin (PH) less than 1% of normal human activity, which can not be converted to phenylalanine tyrosine. Clinical manifestations of severe mental retardation. Using rat PH cDNA cloning For the hybridization probe, the plasmid pBR322 was used as a vector to select the human PHcDNA from human liver CDNA (part of the DNA sequence analysis showed about 90% homology), in which the human DNA fragment was inserted into the two most recombinant PhPH72 and phPH73. The authors extracted chromosomal DNA from two PKU patients with fibroblasts and two normal human lymphocytes and digested them with more than 10 restriction enzymes and then performed Southern hybridization using the phPH72 and phPH73 cDNA as probes.The results showed that the PH gene as usual