Burgert E, Crocq M A, Bausch E, Macher J P, Morris-Rosendahl D J
Institut für Humangenetik und Anthropologie, Universität Freiburg, Germany.
Psychiatr Genet. 1998 Summer;8(2):45-8. doi: 10.1097/00041444-199800820-00002.
Linkage and association studies have implicated the involvement of the tyrosine hydroxylase (TH) gene on chromosome 11p15 in schizophrenia and bipolar disorder (BPD). An association of BPD with a polymorphic tetranucleotide repeat, HUMTH01, located in the first intron of the human TH gene has been reported. Subsequently a rare allele, Ep ([TCAT]10) of this microsatellite marker has been found in French and Tunisian schizophrenic patients only. We have genotyped a different sample of unrelated French schizophrenic and BPD patients from Alsace and matched controls for this polymorphic tetranucleotide repeat sequence. The Ep allele was insignificantly more common in controls than in schizophrenic patients, thus not showing a particular association with schizophrenia. In addition, analysis of the segregation of the Ep allele in the family of one of the schizophrenic patients showed no transmission of this allele from the healthy mother to her schizophrenic daughter. Nevertheless, we did observe a non-significant trend towards an association between HUMTH01 allele D ([TCAT]9) and schizophrenia (Fisher's exact test, p = 0.053). No association was apparent between HUMTH01 and BPD Psychiatr Genet.
连锁与关联研究表明,位于11号染色体p15上的酪氨酸羟化酶(TH)基因与精神分裂症和双相情感障碍(BPD)有关。有报道称,BPD与位于人类TH基因第一内含子中的一个多态性四核苷酸重复序列HUMTH01存在关联。随后,仅在法国和突尼斯的精神分裂症患者中发现了该微卫星标记的一个罕见等位基因Ep([TCAT]10)。我们对来自阿尔萨斯的另一组不相关的法国精神分裂症患者和BPD患者样本以及匹配的对照进行了该多态性四核苷酸重复序列的基因分型。Ep等位基因在对照中比在精神分裂症患者中略微更常见,但未显示出与精神分裂症有特定关联。此外,对其中一名精神分裂症患者家庭中Ep等位基因的分离分析表明,该等位基因未从健康母亲传递给她的精神分裂症女儿。然而,我们确实观察到HUMTH01等位基因D([TCAT]9)与精神分裂症之间存在不显著的关联趋势(Fisher精确检验,p = 0.053)。HUMTH01与BPD之间未发现明显关联。《精神病遗传学》