Analysis of the C314T and A595G mutations in histamine N-methyltransferase gene in a Chinese population

作者：Chen GL; Xu ZH; Wang W; Wang GP; Zhou G; Wang D; Zhou HH^*

来源：Clinica Chimica Acta, 2002, 326(1-2): 163-167.

DOI：10.1016/S0009-8981(02)00299-1

• histamine
• histamine N-methyltransferase
• genotype
• genetic polymorphism
• Chinese

Background: Histamine N-methyltransferase (HNMT) plays an important role in the metabolism of histamine, a biogenic amine that has many physiologic and pathological roles in human tissues. A missense mutation C314T (Thr105Ile) in the HNMT gene has been identified to represent a common functional polymorphism in Caucasians, whereas an A595G (Ile199Val) variant has been reported in one HNMT cDNA from a Japanese subject. Methods: By using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay, the point mutations C314T and A595G within HNMT were both detected in 352 unrelated Chinese Han subjects. Results: None of the 352 subjects contained the A595G mutation, whereas 40 (11.6%) heterozygotes and 1 (0.3%) homozygote for the variant T314 allele were detected. The frequency of the variant T314 allele in this Chinese population was 0.060 (95% CI: 0.042-0.078), not different from Japanese but significantly lower than American Caucasians. Conclusions: The C314T mutation represents a common functional genetic polymorphism in the Chinese Han population with a variant T314 allele frequency similar to Japanese but lower than American Caucasians, whereas the A595G mutation does not appear to exist in this population.

• 出版日期2002-12
• 单位中南大学