MOLECULAR GENETICS OF INHERITED NEUROLOGIC AND PSYCHIATRIC DISORDERS

我们寻找导致遗传性神经系统和 精神疾病 这些细胞中的表型异质性 遗传性疾病可能是由于涉及多个基因或 单个基因中不同突变的结果，每个影响 蛋白质活性和影响加工、区室化 和/或蛋白质的稳定性。 在遗传性疾病的情况下， 已经鉴定出蛋白质异常（例如戈谢病）， Southern分析和聚合酶链扩增用于鉴定 发生在非神经病性和神经病性表型中的突变。 导致神经系统参与这些疾病的分子机制 疾病也在研究中。 这项研究的结果应该提供 用于诊断和配制其它治疗药物的分子基础 这些遗传性疾病的治疗策略。 可能参与的基因 神经精神障碍，如神经递质 生物合成（例如，人酪氨酸羟化酶和色氨酸 羟化酶）和受体（例如，人GABA受体）已经被 与世隔绝 使用间隔为10-20厘摩的DNA标记，我们 正在进行连锁分析，并试图确定基因位点 导致了一个阿米什家族的躁郁症

We search for mutations responsible for inherited neurological and psychiatric disorders. The phenotypic heterogeneity seen within these inherited disorders can be due to involvement of multiple genes or a consequence of different mutations in a single gene, each affecting protein activity and influencing the processing, compartmentalization and/or stability of the protein. In the case of genetic disorders where a protein abnormality has been identified (such as Gaucher disease), southern analysis and polymerase chain amplification is used to identify mutations that occur in non-neuronopathic and neuronopathic phenotypes. The molecular mechanisms leading to nervous system involvement in these disorders are also studied. The results of this research should provide a molecular basis for diagnosis and formulation of additional therapeutic strategies for these inherited disorders. Genes that may be involved in neuropsychiatric disorders, such as those for neurotransmitter biosynthesis (for example, human tyrosine hydroxylase and tryptophan hydroxylase) and receptors (for example, human GABA receptor) have been isolated. Using DNA markers spaced at 10-20 centiMorgan intervals, we are performing linkage analysis and attempting to identify the gene loci responsible for bipolar illness in an Amish pedigree.