Esterling L E, Yoshikawa T, Turner G, Badner J A, Bengel D, Gershon E S, Berrettini W H, Detera-Wadleigh S D
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
Am J Med Genet. 1998 Feb 7;81(1):37-40.
Interactions with antidepressants, as well as other biochemical evidence, implicate the serotonin transporter 5-HTT in the etiology of affective disorders. However, genetic studies have produced conflicting results concerning an association of 5-HTT with bipolar disorder. We examined a variable number tandem repeat in the regulatory region of this gene to investigate the possible contribution of 5-HTT to bipolar disorder susceptibility in a 22-pedigree series. By affected-sib-pair analysis and the transmission/disequilibrium test, we found no significant linkage or association of 5-HTT to bipolar disorder. During the course of this study, we adapted a PCR technique designed to amplify long templates to replicating long GC stretches with complex structure. We also refined the location of 5-HTT by radiation hybrid mapping, placing the locus between D17S1294 and SHGC11022 on 17q11.2.
与抗抑郁药的相互作用以及其他生化证据表明，血清素转运体5-HTT与情感障碍的病因有关。然而，关于5-HTT与双相情感障碍的关联，基因研究得出了相互矛盾的结果。我们检测了该基因调控区域的一个可变数目串联重复序列，以研究在一个包含22个家系的样本中5-HTT对双相情感障碍易感性的可能影响。通过患病同胞对分析和传递/不平衡检验，我们发现5-HTT与双相情感障碍之间没有显著的连锁或关联。在这项研究过程中，我们采用了一种旨在扩增长模板的PCR技术，以复制具有复杂结构的长GC片段。我们还通过辐射杂种图谱法优化了5-HTT的定位，将该基因座定位于17q11.2上的D17S1294和SHGC11022之间。
