泛肽相关蛋白基因UBAP1单核苷酸多态及与鼻咽癌的相关研究
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国家重点基础研究发展规划(973)(G1998051008)和国家自然科学基金资助项目(30100027).


Studies of Single Nucleotide Polymorphisms in UBAP1 Gene and Their Association with Nasopharyngeal Carcinoma
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This work was supported by grants from The Special Funds for Major State Basic Research of China (G1998051008) and The National Natural Sciences Foundation of China (30100027).

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    摘要:

    UBAP1基因是在鼻咽癌9p最小共同缺失区内新克隆的鼻咽癌候选抑瘤基因,通过采用病例-对照研究方法,对105例鼻咽癌患者和183例正常人UBAP1基因的5个单核苷酸多态(SNPs)用测序法进行了分型,在实验过程中,偶然发现了一个新的SNP位点,并已登录至dbSNP(登录号:rs3135929).经相关分析发现,位于UBAP1基因第6外显子中的SNP rs1049557与鼻咽癌发病存在显著相关性,基因型GG和GC的相对危险度分别为1.64和1.31.实验结果进一步支持了UBAP1基因与鼻咽癌的发生发展可能存在密切关系,SNP rs1049557由于处在UBAP1基因下游3′非翻译区,其多态类型可能在某种程度上影响UBAP1基因的表达调控,从而与鼻咽癌发病相关.

    Abstract:

    Nasopharyngeal carcinoma (NPC) is rare in most parts of the world, but prevalent in south China. Recently, UBAP1 gene, which is located in the region of minimal heterozygosity deletion at 9p21.3~22.1 and down-expressed in NPC, has been cloned. The latest results suggest that the UBAP1 gene is the candidate tumor suppressor for NPC. Association study using 5 single nucleotide polymorphisms (SNPs) within UBAP1 gene by means of sequencing was performed in 105 unrelated case subjects and 183 control subjects which matched to the NPC cases on age, sex and residence. Occasionally, a novel SNP has been found, and been submitted to the dbSNP (accession number: ss4384147). Significant result was obtained for one SNP mark (rs1049557), which is resident at 3′ non-translation region of UBAP1 gene; the relative risk of this SNP mark is 1.64 (genotype GG) and 1.31(genotype CG). The result has proved again that UBAP1 gene may play a certain role in occurrence and development of nasopharyngeal carcinoma. The SNP mark rs1049557, considering it's residence, may influence on the expression of UBAP1 gene.

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熊炜,曾朝阳,沈守荣,李小玲,李伟芳,周鸣,李江,贺林,冯国鄞,李桂源.泛肽相关蛋白基因UBAP1单核苷酸多态及与鼻咽癌的相关研究[J].生物化学与生物物理进展,2002,29(5):766-770

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  • 收稿日期:2002-03-11
  • 最后修改日期:2002-05-28
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