Byerley W, Plaetke R, Hoff M, Jensen S, Holik J, Reimherr F, Mellon C, Wender P, O'Connell P, Leppert M
Department of Psychiatry, University of Utah Medical Center, Salt Lake City 84132.
Hum Hered. 1992;42(4):259-63. doi: 10.1159/000154079.
We ascertained 8 multigenerational pedigrees afflicted with multiple cases of bipolar and recurrent major depressive disorder. Alterations in dopaminergic and noradrenergic neurotransmission have been implicated in the pathogenesis of this disease, and tyrosine hydroxylase (TH) is the rate-limiting enzyme in the synthesis of these two catecholamines. As TH mutations could underlie susceptibility to manic-depression, we carried out a linkage analysis between this disease in 8 families and two RFLP probes that map to the TH gene region on the short arm of chromosome 11. Evidence of linkage was not found in 7 of 8 kindreds.
我们确定了8个患有多例双相情感障碍和复发性重度抑郁症的多代系谱。多巴胺能和去甲肾上腺素能神经传递的改变与该疾病的发病机制有关，酪氨酸羟化酶（TH）是这两种儿茶酚胺合成中的限速酶。由于TH突变可能是躁郁症易感性的基础，我们对8个家族中的这种疾病与两个定位于11号染色体短臂TH基因区域的RFLP探针进行了连锁分析。在8个家族中的7个家族中未发现连锁证据。
