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Updated: Jul 20, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[VNTR polymorphism of C6orf37 in Chinese population]
1Department of Pathology, College of Medicine, Zhejiang University, Hangzhou 310031, China.
Objective:
To identify a novel VNTR in C6orf37 and to detect the C6orf37 VNTR polymorphism distribution in Chinese population.
Methods:
RT-PCR and sequencing were conducted to identify VNTR alleles in the variable region of C6orf37.SSLP and DHPLC were applied in detecting the VNTR genotypes in 166 Chinese individuals.
Result:
A novel VNTR sequence was found in the second exon of C6orf37, which was composed of 15 base pairs encoding 5-amino-acid (G-G-D-F-G). The repeat times ranged from 3 to 5. There were three common alleles containing three repeats (a), four repeats (b) and five repeats (c), respectively, which produced three homozygotes (a/a, b/b and c/c) and three heterozygotes (a/b, a/c and b/c). The frequency of a, b, c alleles were 0.145, 0.304, 0.551, respectively in Chinese population. Heterozygosity (H) was 0.583. Polymorphism information content (PIC) was 0.510. The screened result of DHPLC was consistent with that of SSLP.
Conclusion:
A novel highly polymorphic VNTR in C6orf37 exists in Chinese population. DHPLC is the most efficient technique for screening VNTR polymorphism.
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