Journal
CLINICA CHIMICA ACTA
Volume 368, Issue 1-2, Pages 155-159Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.cca.2005.12.043
Keywords
VNTR polymorphism; C6orf37; colorectal cancer; DHPLC; Chinese population
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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.
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