Topić E, Stefanović M, Ivanisević A M, Petrinović R, Curcić I
Clinical Institute of Chemistry, School of Medicine, University of Zagreb and Sestre Milosrdnice University Hospital, Vinogradska c. 29, 10000, Zagreb, Croatia.
Clin Chim Acta. 2000 Jun;296(1-2):101-9. doi: 10.1016/s0009-8981(00)00221-7.
The prevalence of CYP2D63 and CYP2D64 alleles in normal controls and cancer patients was studied using the reliable PCR-SSCP method. In the control group (n=144), four subjects (2.8%) were found to carry CYP2D63 allele (heterozygote), while 30 (20.8%) subjects carried CYP2D64 allele (18.8% heterozygotes, 2.1% homozygotes). One (1.3%) of the breast cancer (BC) patients (n=76) carried CYP2D63 allele, but 24 (31.6%) carried CYP2D64 allele (26.3% heterozygotes, 5.3% homozygotes). In the head and neck cancer (HNC) group (n=56), two (3.6%) patients were heterozygous for CYP2D63 mutation and 15 (26.8%) for CYP2D64 mutation. Fourteen of 56 (25%) and one of 56 (1. 8%) of these patients carried heterozygous and homozygous mutations, respectively. In controls, 2.1% were identified as poor metabolizers (PM), 76.4% as extensive metabolizers (EM), and 21.5% as intermediate heterozygotes (IEM). In BC group, 5.3, 27.6 and 67.1% were classified as PM, IEM and EM, respectively. In HNC group, the incidence of PM was 1.8, but as many as 28.6% were identified as IEM phenotypes.
采用可靠的聚合酶链反应-单链构象多态性（PCR-SSCP）方法，研究了正常对照组和癌症患者中CYP2D63和CYP2D64等位基因的发生率。在对照组（n=144）中，发现4名受试者（2.8%）携带CYP2D63等位基因（杂合子），而30名（20.8%）受试者携带CYP2D64等位基因（18.8%为杂合子，2.1%为纯合子）。乳腺癌（BC）患者（n=76）中有1名（1.3%）携带CYP2D63等位基因，但24名（31.6%）携带CYP2D64等位基因（26.3%为杂合子，5.3%为纯合子）。在头颈癌（HNC）组（n=56）中，2名（3.6%）患者为CYP2D63突变杂合子，15名（26.8%）为CYP2D64突变杂合子。这些患者中，56名中有14名（25%）携带杂合突变，56名中有1名（1.8%）携带纯合突变。在对照组中，则有2.1%被鉴定为慢代谢者（PM），76.4%为快代谢者（EM），21.5%为中间杂合子（IEM）。在BC组中，分别有5.3%、27.6%和67.1%被分类为PM、IEM和EM。在HNC组中，PM的发生率为1.8%，但多达28.6%被鉴定为IEM表型。
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