| 摘要 |
The present invention relates to a single nucleotide polymorphism (SNP) in an organic cation/carnitine transporter 1 (OCTN1) promoter region, and to a use of the same. A mutation occurring in an OCTN1 promoter region is confirmed, and a plasmid having a haplotype including the mutation is produced. It has been confirmed that the activity of a promoter is significantly increased when a g.-1875T>A mutation or a g.-1745A>G mutation occurs in a promoter region, and that the activity of a promoter is significantly decreased when a g.-1145A>G mutation or a g.-248C>G mutation occurs. It has been confirmed that the g.-1875T>A mutation according to the present invention contributes to an increase in an OCTN1 promoter activity because the g.-1875T>A mutation has low coupling affinity with a nuclear factor, Y(NF-Y), which is an OCTN1 transcription inhibitor. Accordingly, an OCTN1 SNP according to the present invention can be useful as a kit for adjusting and confirming an OCTN1 promoter activity so as to confirm reactivity of a medicine and sensibility of diseases and as a confirming method using the same. |
