Liu W, Gu N, Feng G, Zhang J, Li S, Bai S, Shen T, Clair D S, He L
Shanghai Research Center of Life Science, Chinese Academy of Sciences, Shanghai 200031 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Dec 10;15(6):345-8.
The serotonin transporter gene (SERT) plays an important role in the serotonin uptake into neurons. This paper reports a population and association study among the Han Chinese.
DNA were extracted from peripheral blood samples of 50 patients with bipolar disorder (DSM-IIIR), 170 unrelated healthy Han Chinese individuals and 10 healthy trios for polymerase chain reaction. The VNTR locus was amplified and PCR products were separated on the 2% agrose gel.
All the three alleles(9,10 and 12 copies of repeat unit) reported in other studies were observed in this study with frequency 0.0029, 0.0676 and 0.9294, respectively. Four genotypes distributed in Caucasian: 12/12, 12/10, 12/9 and 10/10 were also found in the Han Chinese population. A significant difference in the allele frequency between the Han Chinese and Caucasian populations was found(P 0.000000001). No disequilibrium was observed after checking the Hardy-Weinberg equilibrium (P=0. 9995). The hereditary stability of this locus in accordance with the rules of Mendelian inheritance was demonstrated in the analysis of ten trios. In addition, a significant increase of frequency of the allele 10 in female patients with bipolar disorder was found (P=0. 043).
The data of association study might indicate a different mechanism of aetiology of bipolar disorder in male and female.
血清素转运体基因（SERT）在血清素摄入神经元过程中起重要作用。本文报道了一项针对汉族人群的群体及关联研究。
从50例双相情感障碍患者（DSM-IIIR）、170名无亲缘关系的汉族健康个体以及10个健康三联体的外周血样本中提取DNA，用于聚合酶链反应。对VNTR位点进行扩增，PCR产物在2%琼脂糖凝胶上进行分离。
本研究中观察到其他研究报道的所有三个等位基因（重复单元分别为9、10和12拷贝），其频率分别为0.0029、0.0676和0.9294。在汉族人群中也发现了高加索人群中分布的四种基因型：12/12、12/10、12/9和10/10。发现汉族和高加索人群之间的等位基因频率存在显著差异（P < 0.000000001）。经检验哈迪-温伯格平衡后未观察到不平衡（P = 0.9995）。在对十个三联体的分析中证实了该位点按照孟德尔遗传规律的遗传稳定性。此外，发现双相情感障碍女性患者中10等位基因的频率显著增加（P = 0.043）。
关联研究数据可能表明双相情感障碍在男性和女性中的病因机制不同。
