首页> 外文期刊>Molecular and Cellular Probes: The Location, Diagnosis and Monitoring of Disease by Specific Molecules and Cell Lines >Characterization of a new SNP c767A/T (Arg222Trp) in the candidate TSG FUS2 on human chromosome 3p21.3: prevalence in Asian populations and analysis of association with nasopharyngeal cancer.
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Characterization of a new SNP c767A/T (Arg222Trp) in the candidate TSG FUS2 on human chromosome 3p21.3: prevalence in Asian populations and analysis of association with nasopharyngeal cancer.

机译:人类染色体3p21.3候选TSG FUS2中新SNP c767A / T(Arg222Trp)的特征:亚洲人群中的患病率及与鼻咽癌的相关性分析。

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The FUS2 gene, encoding a novel cytoplasmic acetyltransferase, resides in the tumor suppressor gene region on human chromosome 3p21.3 and is considered a promising candidate tumor suppressor gene. We have identified a new single nucleotide polymorphism (SNP), c767A/T, in the coding region of the gene. The polymorphism leads to a non-conservative amino acid change (R222W) located between the acetyltransferase (GNAT) and the proline-rich domains of the protein. We have analyzed 254 subjects included in 14 sub-populations. The occurrence of the SNP varies with the ethnicity of the population, suggesting that this SNP could be a valuable biomarker for population genetics. It is most prevalent in various Asian populations (T allele frequency>0.54), followed by the Canadian polar Inuit (T allele frequency=0.3), African American (T allele frequency=0.17), and Caucasian population (T allele frequency=0.1). Since nasopharyngeal carcinoma (NPC) is frequent in Southern China, Taiwan, Borneo and polar Canada, we further tested for the possible association of the FUS2 SNP with this form of endemic cancer. Our analysis, albeit limited, suggests no likely association between NPC and the FUS2 gene polymorphism. Further large-scale case-control studies are necessary and warranted to prove the strength of this contention.
机译:编码新型胞质乙酰转移酶的FUS2基因位于人类染色体3p21.3的抑癌基因区域,被认为是有希望的候选抑癌基因。我们已经在该基因的编码区域中确定了一个新的单核苷酸多态性(SNP),c767A / T。多态性导致位于蛋白质的乙酰基转移酶(GNAT)和富含脯氨酸的结构域之间的非保守氨基酸变化(R222W)。我们分析了14个子群体中的254个主题。 SNP的发生随人群的种族而异,这表明该SNP可能是种群遗传学的重要生物标记。它在各种亚洲人群中最普遍(T等位基因频率> 0.54),其次是加拿大极地因纽特人(T等位基因频率= 0.3),非洲裔美国人(T等位基因频率= 0.17)和白种人(T等位基因频率= 0.1)。 。由于鼻咽癌(NPC)在中国南方,台湾,婆罗洲和极地加拿大很常见,因此我们进一步测试了FUS2 SNP与这种形式的地方性癌症的可能联系。我们的分析尽管有限,但表明NPC与FUS2基因多态性之间可能没有关联。有必要进行进一步的大规模病例对照研究,以证明这一争论的强度。

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