精神分裂症相关基因DISC1的发现过程

Discovery[edit]

In 1970, researchers from the University of Edinburgh performing cytogenetic research on a group of juvenile offenders in Scotland found an abnormal translocation in chromosome 1 of one of the boys, who also displayed characteristics of an affective psychological disorder.^[6] After this initial observation, the boy's family was studied and it was found that 34 out of 77 family members displayed the same translocation. According to the Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition) (or DSM-IV) criteria, sixteen of the 34 individuals identified as having the genetic mutation were diagnosed with psychiatric problems. In contrast, five of the 43 unaffected family members were identified to have psychological indispositions. The psychiatric illnesses observed in the family ranged from schizophrenia and major depression to bipolar disorder and adolescent conduct disorder (which the original research subject had).^[7] After studying this large Scottish family for four generations, in 2000, this gene was given the name "DISC1". The name was derived from the basis of the molecular nature of the mutation: the translocation directly disrupts the gene.^[5]

https://en.wikipedia.org/wiki/DISC1

Goole 的翻译：

发现

1970年，爱丁堡大学的研究人员对苏格兰一群少年犯进行细胞遗传学研究，发现其中一名男孩的染色体1异常移位，他们也表现出情感心理障碍的特征。[6]在初步观察之后，男孩的家人被研究，发现77名家庭成员中有34人呈现相同的易位。根据“精神障碍诊断与统计手册（第四版）（第四版）”（或DSM-IV）标准，被确定为具有遗传突变的34人中有16人被诊断患有精神病学问题。相比之下，43名未受影响的家庭成员中有5人被认定有心理上的偏见。家庭观察到的精神疾病包括精神分裂症和重症抑郁症，双相情感障碍和青少年行为障碍（原始研究对象）[7]在这个大苏格兰家庭学习了四代后，2000年，该基因被命名为“DISC1”。该名称源自突变分子性质的基础：易位直接破坏基因[5]