Purification and characterization of an arylamine N-acetyltransferase in the nematode Enterobius vermicularis

中國醫藥大學機構典藏 China Medical University Repository, Taiwan > 醫學院 > 醫學系 > 期刊論文 > Item 310903500/30106

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题名:	Purification and characterization of an arylamine N-acetyltransferase in the nematode Enterobius vermicularis
作者:	Chung, JG
贡献者:	醫學院醫學系;China Med Coll, Dept Med, Taichung 400, Taiwan
日期:	1999
上传时间:	2010-09-24 14:49:20 (UTC+8)
出版者:	FACULTY PRESS
摘要:	Myotonic dystrophy (DM) is caused by a CTG trinucleotide expansion mutation at exon 15 of the myotonic dystrophy protein ki nase gene. The clinical severity of this disease correlates with the length of the CTG trinucleotide repeats. Determination of the CTG repeat length has been primarily relied on by Southern blot analysis of restriction enzyme-digested genomic DNA. The development of PCR-based Southern blotting methodology provides a much more sensitive and simpler protocol for DM diagnosis. However, the quality of the template and the high (G+C) ratio of the amplified region hamper the use of PCR on the diagnosis of DM. A modified PCR protocol to amplify different lengths of CTG repeat region using various concentrations of 7-deaza-dGTP has been reported (1). Here we describe a procedure including sample collection, DNA purification, and PCR analysis of CTG repeat length without using 7-deaza-dGTP. This protocol is very sensitive and convenient because only a small number of nucleate cells are needed for detection of CTG expansion. Therefore, it could be very useful in clinical and prenatal diagnosis as well as in prevalence study of DM. J. Clin. Lab. Anal. 13:188-193, 1999. (C) 1999 Wiley-Liss, Inc.
關聯:	MICROBIOS 98(389):15-25
显示于类别:	[醫學系] 期刊論文

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