EARLY ONSET BIPOLAR AFFECTIVE DISORDER--A GENETIC STUDY OF UNSTABLE DNA

早发性双向情感障碍——不稳定 DNA 的遗传学研究

基本信息

批准号：
6276554
负责人：
MARILYN A DAVIES
金额：
$ 1.83万
依托单位：
CASE WESTERN RESERVE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
1997
资助国家：
美国
起止时间：
1997-12-01 至 1998-11-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/6276554
关键词：
DNA alleles bipolar depression clinical research disease /disorder etiology disease /disorder proneness /risk family genetics fragile X syndromes genetic disorder human subject molecular genetics myotonic dystrophy neuropsychology nucleic acid repetitive sequence

项目摘要

Results of family, twin and adoption studies indicate that genetics is of etiological important in Bipolar Affective Disorder (BPAD). Investigations show that there is considerable family aggregation for bipolar illness. In these studies there is not only an excess of illness in the relatives of probands, but there is increased risk correlated with relatedness. Genetic research has resulted in promising leads for the location of disease-causing alleles. More recent molecular genetic techniques hold promise for discovery of the genetic mechanism(s) for bipolar illness. Recent discoveries of unstable DNA (aberrant expansion of exonic trinucleotide repeats) in the inherited neuropsychiatric disorders of Fragile X syndrome, myotonic dystrophy and Kennedy's disease have generated interest in whether expanding trinucleotide repeat sequences (TNRs) are related to psychiatric disorders, particularly schizophrenia and bipolar illness. This novel mechanism may have relevance because these psychiatric disorders exhibit two features which are common among the neuropsychiatric disorders with unstable DNA:nonmendelian inheritance patterns and genetic anticipation. This research tests the unstable DNA hypothesis of bipolar affective disorder (BPAD). The hypothesis to be tested is that there will be a significant shift toward larger products in probands than controls.

家庭，双胞胎和收养研究的结果表明遗传学是对双相情感障碍（BPAD）的病因重要。调查表明，有相当大的家庭汇总躁郁症。在这些研究中，不仅有过多的疾病中的疾病，但风险增加与相关性相关。遗传研究已为位置带来了有希望的潜在客户引起疾病的等位基因。最近的分子遗传技术保持发现双极疾病的遗传机制的承诺。最近发现不稳定DNA的发现（外界的异常扩展三核苷酸重复序列）脆弱的X综合征，肌营养不良症和肯尼迪氏病具有对扩展三核苷酸重复序列是否产生了兴趣（TNR）与精神疾病有关，尤其是精神分裂症和躁郁症。这种新颖的机制可能具有相关性，因为这些精神疾病表现出两个常见的特征具有不稳定DNA的神经精神疾病：nonmendelian 继承模式和遗传预期。这项研究检验了双极情感的不稳定DNA假设疾病（BPAD）。要检验的假设是比对照组中的概率大转向更大的产品。