Körner J, Rietschel M, Hunt N, Castle D, Gill M, Nöthen M M, Craddock N, Daniels J, Owen M, Fimmers R
Department of Psychiatry, University of Bonn, Germany.
Psychiatr Genet. 1994 Fall;4(3):167-75. doi: 10.1097/00041444-199400430-00007.
Tyrosine hydroxylase (TH) is the key enzyme in the synthesis of catecholamines and may therefore be of aetiological relevance in the development of psychiatric illness. Hipolar affective disorder association studies, with restriction fragment length polymorphisms located in flanking regions of the TH gene, have shown conflicting results. Alleles of a tetranucleotide repeat polymorphism (TH4) located in intron 1 of the gene were tested for association with bipolar affective disorder in a combined German and British sample of 183 bipolar patients and 209 healthy control probands. No differences in TH4 allele frequencies were found in the two groups. A subset of patients and controls was typed with the flanking markers Ty7/BglII and pJ4.7/TaqI and frequencies of two-locus haplotypes were estimated. Linkage disequilibrium was found between TH4-Ty7 and TH4-pJ4.7. Haplotype frequencies did not differ between patients and controls.
酪氨酸羟化酶（TH）是儿茶酚胺合成中的关键酶，因此可能与精神疾病的发病机制相关。利用位于TH基因侧翼区域的限制性片段长度多态性进行的双相情感障碍关联研究结果相互矛盾。对位于该基因内含子1的四核苷酸重复多态性（TH4）的等位基因，在183例德国和英国双相情感障碍患者及209例健康对照先证者的联合样本中进行了与双相情感障碍的关联检测。两组中TH4等位基因频率未发现差异。对一部分患者和对照用侧翼标记Ty7/BglII和pJ4.7/TaqI进行分型，并估计了两位点单倍型的频率。发现TH4-Ty7和TH4-pJ4.7之间存在连锁不平衡。患者和对照之间的单倍型频率没有差异。
