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Detection of the Plasma Cholinesterase K Variant by PCR Using an Amplification-Created Restriction Site

 

作者: F.S. Jensen,   L.R. Nielsen,   M. Schwartz,  

 

期刊: Human Heredity  (Karger Available online 1996)
卷期: Volume 46, issue 1  

页码: 26-31

 

ISSN:0001-5652

 

年代: 1996

 

DOI:10.1159/000154321

 

出版商: S. Karger AG

 

关键词: Genetic variants;Plasma cholinesterase;PCR

 

数据来源: Karger

 

摘要:

Ten individuals registered at the Danish Cholinesterase Research Unit were examined at the DNA level for the presence of the K allele of plasma cholinesterase, using amplification-created restriction sites (ACRSs). A further nine members of a family registered at the unit were tested for mutations of the K and atypical variants. The frequency of the K allele was calculated from examination of normal material from 25 individuals, representing 50 random alleles. The results show that the ACRS method successfully demonstrates the presence of the K variant, whose frequency in the Danish population was found to be 0.18. We conclude that this technique is a reliable and rapid non-radioactive diagnostic assay for detecting the plasma cholinesterase K variant.

 

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