A STUDY ON CHINESE PHENYLALANINE HYDROXYLASE GENE RESTRICTION SITE POLYMORPHISM

• 作 者: 曾溢滔 黄淑帧 陈美珏 张美兰 任兆瑞 徐永华 彭素芬 SAVIO L. C. WOO 胡流清
• 机 构: Laboratory of Medical Genetics, Shanghai Children\'s Hospital,Laboratory of Medical Genetics, Shan
• 出 处: Science in China,Ser.B
• 发表日期: 1988年12期
• 关键词: hydroxylase EcoRI permit length phenylalanine linkage parents chromosome chromos

Human phenylalanine hydroxylase (PAH) cDNA was applied as a hybridization probe to analyzing the following 8 restriction fragment length polymorphisms (RFLP) in the PAH genes of 80 normal and 28 phenylketonuric Chinese patients: BgⅢ, 3.6kb/1.7kb; EcoRI, 17kb/11kb; EcoRV, 30kb/25kb; HindⅢ, 4.2kb/4.0kb; MspIa, 23kb/19kb; MspIb, 4.0kb/2.2kb; PvuIIa, 19kb/6.0kb and PvuIIb, 11.5kb/9.1kb. The frequencies of the above RFLP in normal Chinese and PKU patients are: 0.13, 0.83, 0.77, 0.81, 0.12, 0.04, 0.70, 0.10 and 0.12, 0.93, 0.89, 0.81, 0.04, 0, 0.69, 0.04, respectively. This study reveals significant differences between the frequencies of individual RFLPs when these values are compared with those of the Caucasians. Finally, the detection of RFLPs in the PAH gene in the Chinese population will permit prenatal diagnosis of PKU in China.

Human phenylalanine hydroxylase (PAH) cDNA was applied as a hybridization probe to analyze the following 8 restriction fragment length polymorphisms (RFLP) in the PAH genes of 80 normal and 28 phenylketonuric Chinese patients: BgIII, 3.6kb / 1.7kb; EcoRI, 17kb / 11kb; EcoRV, 30kb / 25kb; HindIII, 4.2kb / 4.0kb; MspIa, 23kb / 19kb; MspIb, 4.0kb / 2.2kb; PvuIIa, 19kb / 6.0kb and PvuIIb, 11.5kb / 9.1kb. The frequencies of the above RFLP in normal Chinese and PKU patients are: 0.13, 0.83, 0.77, 0.81, 0.12, 0.04, 0.70, 0.10 and 0.12, 0.93, 0.89, 0.81, 0.04, 0.69, 0.04, respectively. Finally, the detection of RFLPs in the PAH gene in the Chinese population will permit prenatal diagnosis of PKU in China.