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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