不同种族间细胞周期蛋白D1单核苷酸多态性的显著差异

GeneScreen Pub Date : 2002-01-25 DOI:10.1046/j.1466-9218.2001.00014.x

Judith A. McKay, Jessie Githang’a, Anne Indalo, Tao Li, Xiehe Liu, Margaret-Mary Ameyaw, David Ofori-Adjei, Howard L. McLeod

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引用次数: 6

摘要

Cyclin D1由CCND1基因编码，是细胞周期G1/S期检查点的关键调控因子。CCND1基因nt870处常见的A/G单核苷酸多态性(SNP)与肺癌和头颈癌患者的预后相关。本研究的目的是确定五个不同民族人群中CCND1多态性的基因型和等位基因频率。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对5个不同人种(高加索人、西南亚人、加纳人、肯尼亚人和中国人)505例受试者的基因组DNA进行分析。结果不同民族人群的基因型差异显著，G等位基因的纯合性从中国人的13.6%到肯尼亚人的62.4%不等(P <0.001)。尽管东非和西非种群显示出几乎相同的等位基因频率，但这两个种群与其余种群之间存在显著差异。西南亚人群的CCND1等位基因频率介于白种人和中国人之间，但差异不显著(P = 0.003)。种族群体之间SNP频率的这些显著差异可能对这些人群的癌症预后有重大影响，因为CCND1基因型似乎影响迄今为止所检查的每种肿瘤类型的预后。

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Distinct differences in a cyclin D1 single nucleotide polymorphism between ethnic groups

Introduction Cyclin D1, encoded by the CCND1 gene, is a key regulator of the cell cycle at the G1/S phase checkpoint. A common A/G single nucleotide polymorphism (SNP) at nt870 of the CCND1 gene has been associated with outcome in patients with lung tumours and head and neck cancer. The aim of this study was to ascertain the genotype and allele frequency of the CCND1 polymorphism in five distinct ethnic populations.

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GeneScreen

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