Jiang Wan-kui, Xu Qing-song, Piao Yong-quan
Department of Neurology, Yanbian Brain Hospital, Yanji, Jilin, 133000 People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):93-5.
To investigate the polymorphisms distribution of genes related with mental diseases, such as proline dehydrogenase gene (PRODH) and serotonin 2A(5-HT(2A)) receptor gene, among Korean-Chinese and Han nationality in Chinese Yanbian area.
By utilizing techniques of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), the polymorphisms for -1945 region of the PRODH gene and -1438 region of the 5-HT(2A) receptor gene were analyzed.
The PRODH genotype frequencies of MM, Mm and mm in Korean-Chinese population were 61.4%,34.4%,4.2% respectively, the allele frequencies were 0.786 for M and 0.214 for m respectively, and those in Han population were 55.2%,38.5%,6.3%, 0.745 and 0.255 respectively. The 5-HT(2A) receptor gene genotype frequencies of AA, AG and GG in Korean-Chinese population were 15.6%,67.7%,16.7% respectively, the allele frequencies were 0.495 for A and 0.505 for G respectively, and those in Han population were 11.5%,65.6%,22.9%, 0.443 for A and 0.557 for G.
All of the genotype distribution of both loci in Chinese Korean and Han nationality in Yanbian area meet Hardy-Weinberg equilibrium, and show stronger ability in human identity. The data obtained can be used in human identity, paternity testing and Chinese Korean ethnic group study.
研究延边地区朝鲜族和汉族人群中与精神疾病相关基因如脯氨酸脱氢酶基因（PRODH）和5-羟色胺2A（5-HT(2A)）受体基因的多态性分布。
利用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，分析PRODH基因-1945区域和5-HT(2A)受体基因-1438区域的多态性。
朝鲜族人群中PRODH基因的MM、Mm和mm基因型频率分别为61.4%、34.4%、4.2%，等位基因频率M为0.786，m为0.214；汉族人群中其基因型频率分别为55.2%、38.5%、6.3%，等位基因频率M为0.745，m为0.255。朝鲜族人群中5-HT(2A)受体基因的AA、AG和GG基因型频率分别为15.6%、67.7%、16.7%，等位基因频率A为0.495，G为0.505；汉族人群中其基因型频率分别为11.5%、65.6%、22.9%，等位基因频率A为0.443，G为0.557。
延边地区朝鲜族和汉族两个位点的基因型分布均符合Hardy-Weinberg平衡，且在个体识别方面能力较强。所获数据可用于个体识别、亲子鉴定及朝鲜族群体研究。
