Department of Medical Biology, Medical Faculty, University of Harran, Şanlıurfa, Turkey.
Braz J Med Biol Res. 2012 Nov;45(11):1011-6. doi: 10.1590/s0100-879x2012007500129. Epub 2012 Aug 16.
Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of the p53 protein. The Arg and Pro variants in p53 codon 72 were shown to have different regulation properties of p53-dependent DNA repair target genes that can affect various levels of cytogenetic aberrations in chronic hepatitis B patients. The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism. Fifty-eight patients with chronic hepatitis B and 30 healthy individuals were genotyped in terms of the p53 gene codon 72 Arg72Pro polymorphism by PCR-RFLP. A 72-h cell culture was performed on the same individuals and evaluated in terms of chromosomal aberrations and mitotic index. A high frequency of chromosomal aberrations and low mitotic index were detected in the patient group compared to the control group. A higher frequency of chromosomal aberrations was detected in both the patient and the control groups with a homozygous proline genotype (13 patients, 3 control subjects) compared to patients and controls with other genotypes [Arg/Pro (38 patients, 20 control subjects) and Arg/Arg (7 patients, 7 control subjects)]. We observed an increased frequency of cytogenetic aberrations in patients with chronic hepatitis B. In addition, a higher frequency of cytogenetic aberrations was observed in p53 variants having the homozygous proline genotype compared to variants having other genotypes both in patients and healthy individuals.
p53 基因参与 DNA 修复，其多态性可影响 p53 蛋白的功能。p53 密码子 72 中的 Arg 和 Pro 变体具有不同的 p53 依赖性 DNA 修复靶基因调控特性，可影响慢性乙型肝炎患者各种水平的细胞遗传学异常。本研究旨在研究慢性乙型肝炎患者的染色体畸变频率和有丝分裂指数及其与 p53 基因外显子 4 密码子 72 Arg72Pro（Ex4+119 G>C；rs1042522）多态性的可能相关性。通过 PCR-RFLP 对 58 例慢性乙型肝炎患者和 30 例健康个体进行 p53 基因密码子 72 Arg72Pro 多态性的基因分型。对同一个体进行 72 小时细胞培养，并评估染色体畸变和有丝分裂指数。与对照组相比，患者组的染色体畸变频率较高，有丝分裂指数较低。与其他基因型（Arg/Pro 型[38 例患者，20 例对照]和 Arg/Arg 型[7 例患者，7 例对照]）相比，患者和对照组中纯合脯氨酸基因型（13 例患者，3 例对照）的染色体畸变频率更高。我们观察到慢性乙型肝炎患者的细胞遗传学异常频率增加。此外，与其他基因型相比，p53 变体的纯合脯氨酸基因型在患者和健康个体中均观察到更高的细胞遗传学异常频率。
