Single nucleotide polymorphism

Association between BMP-2 and COL6A1 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the cervical spine in Korean patients and family members

K. H. Kim, Kuh, S. U., Park, J. Y., Lee, S. J., Park, H. S., Chin, D. K., Kim, K. S., and Cho, Y. E., “Association between BMP-2 and COL6A1 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the cervical spine in Korean patients and family members”, vol. 13, pp. 2240-2247, 2014.

COL6A1 and BMP-2 genes have been implicated in ossification of the posterior longitudinal ligament (OPLL) susceptibility in Japanese and Chinese Han populations. However, no study has yet investigated the DNA of unaffected family members of patients with OPLL. This study investigated differences in genetic polymorphisms of BMP-2 and COL6A1 between Korean patients with OPLL and their family members (with and without OPLL). A total of 321 subjects (110 patients with OPLL and 211 family members) were enrolled in the study.

Rabbit MSTN gene polymorphisms and genetic effect analysis

X. B. Qiao, Xu, K. Y., Li, B., Luan, X., Xia, T., and Fan, X. Z., “Rabbit MSTN gene polymorphisms and genetic effect analysis”, vol. 13, pp. 2590-2597, 2014.

We analyzed meat samples of nine pure lines of rabbit and its 37 hybrid combinations by sequencing and single-strand conformation polymorphism techniques to explore genetic polymorphisms of all the three exon regions and part of the 5'-regulatory region of the myostatin (MSTN) gene. Thus, we detected a single nucleotide mutation (T→C) on the 476 locus of the 5'-regulatory region, but no mutation sites were detected in the exon areas.