Romanowicz-Makowska Hanna, Smolarz Beata
Instytut Centrum Zdrowia Matki Polki w Łodzi, Pracownia Biologii Molekularnej, Zakład Patomorfologii Klinicznej.
Pol Merkur Lekarski. 2007 Aug;23(134):107-9.
Polymorphisms in DNA repair genes resulting in variation of DNA repair efficiency may therefore be associated with cancer risk.
In the present work the distribution of genotypes and frequency of alleles of the Lys751Gln polymorphism of XPD gene in subjects with breast cancer were investigated.
Genomic DNA isolated from 92 breast cancer patients and control (n=110) was used to genotype XPD Lys751Gln by means of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis.
The distribution of the genotypes of the Lys751Gln polymorphism of XPD in both control and patients did not differ significantly (p > 0.05) from those predicted by the Hardy-Weinberg distribution. There were no significant differences (p > 0.05) in genotype distributions and allele frequencies between subgroups assigned to histological stage.
The results suggest that the Lys751Gln polymorphism of XPD gene may not be linked with appearance and development of breast cancer.
DNA修复基因中的多态性导致DNA修复效率的变化,因此可能与癌症风险相关。
在本研究中,调查了乳腺癌患者中XPD基因Lys751Gln多态性的基因型分布和等位基因频率。
从92例乳腺癌患者和对照组(n = 110)中分离出基因组DNA,通过聚合酶链反应和限制性片段长度多态性(PCR-RFLP)分析对XPD Lys751Gln进行基因分型。
对照组和患者组中XPD Lys751Gln多态性的基因型分布与哈迪-温伯格分布预测的分布无显著差异(p>0.05)。根据组织学分期划分的亚组之间,基因型分布和等位基因频率无显著差异(p>0.05)。
结果表明,XPD基因的Lys751Gln多态性可能与乳腺癌的发生和发展无关。