(2005). CYP2D6 gene deletion allele in patients with neuroleptic malignant syndrome: Preliminary report. Psychiatry Clin Neurosci 59:504-507.Kato,D,Kawanishi,C,Kishida,I,Furuno,T,Matsumura,T,Hasegawa,H,Suzuki,K,Hirayasu,Y.CYP2D6 gene deletion allele in patients with neuroleptic malignant syndrome...
CYP2D6∗5 Gene deletion Abolished (PM) CYP2D6∗6, CYP2D6∗7,CYP2D6∗8, CYP2D6∗14 Frameshift (CYP2D6∗6) Abolished (PM) CYP2D6∗9, CYP2D6∗29, CYP2D6∗36 Decreased (IM) CYP2D6∗10 P34S Decreased (IM) CYP2D6∗10 x N Copy number variation Decreased (IM) CYP2D6...
CYP2D6 gene deletion (allele *5) and duplication/multiplication (allele *xN) were determined using a TaqMan Copy Number Assay (Hs04502391_cn). Activity scores for CYP2D6 were assigned according to established guidelines10,12,32,33,34. To see a distinct effect of CYP2D6 functionality on the ...
Aim: The human cytochrome P450 2D6 (CYP2D6) gene copy number variation, involving CYP2D6 gene deletion ( CYP2D6*5 ) and duplication or multiduplication ( CYP2D6*×N ), can result in reduced or increased metabolism of many clinically used drugs. The identification of CYP2D6*5 and CYP2D6*...
There are many functional CYP polymorphism patterns that result from the SNPs, that is, synonymous and nonsynonymous SNPs, nucleotide substitu- tion, frameshift, splicing defect, CYP2D7/2D6 hybrid or GC, small insertion/deletion, tandem rearrangement, especially gene deletion, duplication, and ...
Gaedigk A, Blum M, Gaedigk R, Eichelbaum M, Meyer UA: Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. Am J Hum Genet. 1991, 48: 943-950. CAS PubMed PubMed Central Google Schol...
[4] MeijermanI,SandersonLM,SmitsPH,eta1.Pharmaco— 目前研究 CYP2D6基因CNVs的技术主要是基于 geneticscreeningofthegenedeletion andduplicationsof 芯片杂交 ’ 。常用的是 比较基因组杂交技术 CYP2D6[J].DmgMetabRev,2007,39:45—60. 协和 医学 杂志 [5] 陈执 中.人类基因组拷贝数变异与新药研究开发 ...
The allele frequency of CYP2D6 gene deletion (*5) and duplication (*1×N or *2×N) was 4.3% and 14.8%, respectively. Twenty-six percent of the patients carried duplicated or multiplicated CYP2D6 gene. An increase in CYP2D6 activity score was associated with increased endoxifen concentration...
It contains nine exons consisting of 1461 codons and is highly polymorphic, with more than a hundred genetic variations and numerous subvariants that differ in single nucleotide polymorphisms (SNPs) or copy number variations (CNV); the latter resulting from CYP2D6 gene deletion or multiplication. ...
该液相芯片可用于检测CYP2D6基因的两种正常基因型CYP2D6*1和CYP2D6*2以及五种国内常见突变基因型CYP2D6*3、CYP2D6*4、CYP2D6*5、CYP2D6*10和CYP2D6的基因重复(Gene Duplication)突变。 一种CYP2D6基因突变检测液相芯片,包括有: (A).针对CYP2D6 C2850T、CYP2D6 Deletion的突变位点的ASPE引物:每种ASPE引物由3’...