ASSOCIATION WITHIN A FAMILY OF A BALANCED AUTOSOMAL TRANSLOCATION WITH MAJOR MENTAL-ILLNESS
ASSOCIATION WITHIN A FAMILY OF A BALANCED AUTOSOMAL TRANSLOCATION WITH MAJOR MENTAL-ILLNESS
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DOI：
10.1016/0140-6736(90)91520-k
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发表时间：
1990-07-07
期刊：
影响因子：
168.9
通讯作者：
EVANS, HJ
中科院分区：
文献类型：
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作者：
STCLAIR, D;BLACKWOOD, D;EVANS, HJ
对苏格兰爱丁堡MRC细胞遗传学登记处的282个有家族性常染色体异常的家系进行了检查，以确定是否存在相关的精神疾病。在一个大型家系中，有23例精神和/或行为障碍患者符合研究诊断标准。在可用于细胞遗传学分析的77个家族成员中，有34个成员携带平衡易位t(1：11)(q43，q21)。有易位的34名成员中有16名被记录了精神疾病诊断，而没有易位的43名成员中只有5名有精神疾病诊断。当表型中的精神障碍仅限于精神分裂症、分裂情感障碍、复发性抑郁症、青少年行为和情绪障碍时，Lod得分(相对于易位与精神疾病的偶然联系)最高。尽管这个家族中的精神疾病可能不是普通人群中的典型，但研究结果表明，11号染色体的Q21-22区域可能是一个很有希望的区域，可以用来研究易患重大精神疾病的基因。
282 pedigrees in the MRC Cytogenetics Registry, Edinburgh, Scotland, with familial autosomal anomalies were examined for the presence of associated mental illness. In one large pedigree there were 23 cases of mental and/or behavioural disorders meeting Research Diagnostic Criteria. 34 of the 77 family members available for cytogenetic analysis carried a balanced translocation t(1:11) (q43,q21). Psychiatric diagnoses had been recorded for 16 of the 34 members with the translocation compared with only 5 of the 43 without it. The lod scores (against chance linkage of the translocation with mental illness) were greatest when the mental disorders in the phenotype were restricted to schizophrenia, schizoaffective disorder, recurrent major depression, and adolescent conduct and emotional disorders. Although the mental illness in this family may not be typical of that in the general population, the findings suggest that the q21-22 region of chromosome 11 may be a promising area to examine for genes predisposing to major mental illness.