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| A STUDY ON CHINESE PHENYLALANINE HYDROXYLASE GENE RESTRICTION SITE POLYMORPHISM | |
| 作者姓名： | 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 |
| 作者单位： | Laboratory of Medical Genetics，Shanghai Children's Hospital，Laboratory of Medical Genetics，Shanghai Children's Hospital，Laboratory of Medical Genetics，Shanghai Children's Hospital，Laboratory of Medical Genetics，Shanghai Children's Hospital，Laboratory of Medical Genetics，Shanghai Children's Hospital，Shanghai Institute of Cell Biology，Academia Sinica，Shanghai Institute of Cell Biology，Academia Sinica，Department of Cell Biology，Baylor College of Medicine，Houston，Texas 77030 U.S.A.，Department of Cell Biology，Baylor College of Medicine，Houston，Texas 77030 U.S.A. |
| 摘 要： | 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. |
A STUDY ON CHINESE PHENYLALANINE HYDROXYLASE GENE RESTRICTION SITE POLYMORPHISM |
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| ZENG YITAO HUANG SHUZHEN CHEN MEIJUE ZHANG MEILAN REN ZHAORUI.A STUDY ON CHINESE PHENYLALANINE HYDROXYLASE GENE RESTRICTION SITE POLYMORPHISM[J].Science in China(Chemistry),1988(12). | |
| Authors: | ZENG YITAO HUANG SHUZHEN CHEN MEIJUE ZHANG MEILAN REN ZHAORUI |
| Abstract: | |
| Keywords: | phenylketonuria Chinese PAH gene polymorphism |
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