Bhaduri Nipa, Mukhopadhyay Kanchan
Manovikas Biomedical Research and Diagnostic Centre, 482, Madudah, Plot I-24, Sec.-J, E.M. Bypass, Kolkata 700107, India.
Cell Mol Neurobiol. 2008 May;28(3):343-50. doi: 10.1007/s10571-007-9256-8. Epub 2008 Jan 3.
Plasma dopamine beta-hydroxylase activity (plDbetaH) is tightly regulated by the DBH gene and several genetic polymorphisms have been found to independently exert their influence. In the present investigation, association of four DBH polymorphisms, DBH-STR, rs1611115, rs1108580, and rs2519152 with plDbetaH was examined in blood samples from 100 unrelated individuals belonging to the state of West Bengal, Eastern India. Genotypes obtained after PCR amplification and restriction digestion were used for statistical analyses. plDbetaH was measured using a photometric assay and its correlation with the genetic polymorphisms was analyzed using analysis of variance and linear regression. Moderate linkage disequilibrium (LD) was observed between DBH-STR and rs1611115, while rs1108580 and rs2519152 were in strong LD. 'T' allele of rs1611115 showed strong negative correlation with plDbetaH, whereas DBH-STR, rs1108580 and rs2519152 had no major effect. Four haplotypes showed significant influence on plDbetaH. This is the first report on the effect of genetic polymorphisms on plDbetaH from the Indian sub-continent. rs1611115 was the only polymorphism that showed substantial control over plDbetaH. Other polymorphisms which did not show individual effects could possibly be part of larger haplotype blocks that carry the functional polymorphisms controlling plDbetaH.
血浆多巴胺β-羟化酶活性（plDbetaH）受DBH基因严格调控，已发现几种基因多态性可独立发挥作用。在本研究中，对来自印度东部西孟加拉邦100名无亲缘关系个体的血样，检测了四种DBH多态性（DBH-STR、rs1611115、rs1108580和rs2519152）与plDbetaH的关联。PCR扩增和限制性消化后获得的基因型用于统计分析。采用光度法测定plDbetaH，并通过方差分析和线性回归分析其与基因多态性的相关性。观察到DBH-STR与rs1611115之间存在中度连锁不平衡（LD），而rs1108580和rs2519152处于强LD状态。rs1611115的“T”等位基因与plDbetaH呈强负相关，而DBH-STR、rs1108580和rs2519152没有主要影响。四种单倍型对plDbetaH有显著影响。这是印度次大陆关于基因多态性对plDbetaH影响的首次报道。rs1611115是唯一对plDbetaH有实质性控制作用的多态性。其他未显示个体效应的多态性可能是携带控制plDbetaH功能多态性的更大单倍型块的一部分。
