Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population
Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population
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DOI：
10.1016/j.cca.2005.12.043
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发表时间：
2006-06-01
影响因子：
5
通讯作者：
Yao, Chan
中科院分区：
文献类型：
--
作者：
Cui, Jing;Wang, Wei;Yao, Chan
背景：C6 orf 37是我们前期研究发现的在大肠腺瘤中表达上调的基因。方法：采用RT-PCR和测序方法，对C6 orf 37基因的可变区进行鉴定，确定其为VNTR。结果：在C6 orf 37第二外显子发现一个新的VNTR序列，该序列由15个碱基组成，编码5个氨基酸（G-G-D-F-G）。重复时间POST http://ees.elsevier.com/cca/upload。aspx等位基因分别含有3个重复序列（a）、4个重复序列（B）和5个重复序列（c），产生3个纯合子（a/a、B/B和c/c）和3个杂合子（a/B、a/c和B/c）。中国人群a、B、c等位基因频率分别为0.145、0.304、0.551。杂合度（H）为0.583。多态信息含量（PIC）为0.510。结论：中国人群中存在一种新的VNTR基因C6 orf 37多态性，该多态性与结直肠癌的发生无相关性。(c)2006 Elsevier B. V.保留所有权利。
Background: C6orf37 was a gene up-regulated in colorectal adenoma in Our previous study. A variable region of C6orf37 sequence was found when we blasted its full sequence with NCBI nucleotide database.Methods: RT-PCR and sequencing were conducted to identify the variable region of C6orf37 as VNTR. DHPLC was applied to detect the VNTR genotypes in 122 colorectal carcinoma patients and 166 healthy controls.Results: A novel VNTR sequence found in C6orf37 second exon was composed of 15 base pair consensus sequence encoding 5-amino-acid (G-G-D-F-G). The repeat timePOST http://ees.elsevier.com/cca/upload. aspx alleles contain three repeats (a), 4 repeats (b) and 5 repeats (c), respectively, which produced 3 homozygotes (a/a, b/b and c/c) and 3 heterozygotes (a/b, a/c and b/c). a, b, c allele frequencies were 0.145, 0.304, 0.551, respectively in Chinese population. Heterozygosity (H) was 0.583. Polymorphism information content (PIC) was 0.510. The distribution of genotypes and allele frequencies of the VNTR reached no significant difference between patients and healthy controls and there was no correlation between VNTR polymorphism and colorectal cancer clincopathological features.Conclusion: A novel VNTR polymorphism in C6orf37 exists in Chinese population and is not associated with colorectal cancer risk. (c) 2006 Elsevier B.V. All rights reserved.