Detection of the plasma cholinesterase K variant by PCR using an amplification-created restriction site

被引:46
作者
Jensen, FS
Nielsen, LR
Schwartz, M
机构
[1] NATL UNIV HOSP, RIGSHOSP, CLIN GENET SECT, DK-2100 COPENHAGEN, DENMARK
[2] NATL UNIV HOSP, RIGSHOSP, DEPT PAEDIAT, DK-2100 COPENHAGEN, DENMARK
关键词
genetic variants; plasma cholinesterase; PCR;
D O I
10.1159/000154321
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
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.
引用
收藏
页码:26 / 31
页数:6
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