Rietschel M, Nöthen M M, Lannfelt L, Sokoloff P, Schwartz J C, Lanczik M, Fritze J, Cichon S, Fimmers R, Körner J
Department of Psychiatry, University of Bonn, Germany.
Psychiatry Res. 1993 Mar;46(3):253-9. doi: 10.1016/0165-1781(93)90093-v.
Association studies offer a promising tool to investigate the potential role of DNA sequence variation affecting the expression or sequence of proteins in susceptibility to common diseases. We determined the frequency of a DNA polymorphism resulting in a glycine to serine substitution at position 9 in the extracellular N-terminal part of the dopamine D3 receptor protein in a sample of 83 patients suffering from bipolar affective disorder and 100 control subjects. No significant differences between the groups were found. Thus, this substitution, which is the first sequence variation identified in the dopamine D3 receptor gene altering the amino acid sequence of the protein, can be regarded as a protein variant with no major effect on the susceptibility to bipolar affective disorder.
关联研究为调查DNA序列变异在常见疾病易感性中影响蛋白质表达或序列的潜在作用提供了一种有前景的工具。我们在83例双相情感障碍患者和100例对照受试者的样本中，确定了多巴胺D3受体蛋白细胞外N端第9位导致甘氨酸替换为丝氨酸的DNA多态性频率。两组之间未发现显著差异。因此，这种替换是多巴胺D3受体基因中鉴定出的首个改变蛋白质氨基酸序列的序列变异，可被视为对双相情感障碍易感性无重大影响的蛋白质变体。
