Ginsburg B E, Werick T M, Escobar J I, Kugelmass S, Treanor J J, Wendtland L
Biobehavioral Sciences Graduate Degree Program/Psychology, University of Connecticut, Storrs 06269-4154, USA.
Behav Genet. 1996 May;26(3):325-33. doi: 10.1007/BF02359388.
Molecular genetics is helping define the contribution of genetic involvement in behavioral disorders. At this time, however, a severely limiting factor for DNA linkage studies of these disorders remains the definition of the phenotype. An example of this is found in the group of studies examining linkage of schizophrenia to the 5q location. Although various broad clinical interpretations of the schizophrenia phenotype were used to test for linkage, all but one study reported findings negative for linkage of schizophrenia to the 5q area. We offer a strategy based on family studies using segregation data of behavioral subtypes. We apply this strategy using molecular genetic technology to our study of psychopathology in patients. This approach offers the possibility of a clearer definition of the phenotype and is suggested for use in both linkage and association studies of neuropsychiatric disorders.
分子遗传学有助于明确基因参与行为障碍的作用。然而,目前这些疾病的DNA连锁研究的一个严重限制因素仍然是表型的定义。在研究精神分裂症与5q位置的连锁关系的研究组中就发现了这样一个例子。尽管使用了对精神分裂症表型的各种广泛临床解释来检测连锁关系,但除了一项研究外,所有研究都报告了精神分裂症与5q区域连锁关系呈阴性的结果。我们提供了一种基于家系研究的策略,该策略使用行为亚型的分离数据。我们将这种策略与分子遗传技术一起应用于对患者精神病理学的研究。这种方法有可能更清晰地定义表型,并建议用于神经精神疾病的连锁和关联研究。