Ewald H, Eiberg H, Mors O
Department of Psychiatric Demography, Institute for Basic Psychiatric Research, Aarhus, Denmark.
Psychiatr Genet. 1995 Fall;5(3):105-11. doi: 10.1097/00041444-199505030-00002.
Very few studies have investigated linkage between manic depressive illness and markers from chromosome 20. Apparently no cytogenetic abnormalities involving chromosome 20 have been described in patients with affective disorders. Several interesting candidate genes of possible psychiatric relevance have been mapped to chromosome 20, including genes encoding a G-protein subunit and two enzymes involved in the phosphatidylinositol cycle, which have been implicated in the pathophysiology of affective disorder as well as the action of lithium, and two alpha-adrenergic receptors. The present study investigated linkage between manic depressive illness and 11 markers from chromosome 20 in two manic depressive families, and did not find evidence for a major disease allele. A single microsatellite marker, D20S39, yielded positive lod scores or all models in each family in the two-point affecteds-only analyses. However, this was not supported by two-point analyses with flanking markers or multi-point affecteds-only analyses. No evidence of linkage between manic depressive illness and markers covering chromosome 20 was found assuming dominant or recessive mode of inheritance.
极少有研究调查过躁郁症与20号染色体标记之间的连锁关系。显然,情感障碍患者中尚未有涉及20号染色体的细胞遗传学异常的相关描述。几个可能与精神疾病相关的有趣候选基因已被定位到20号染色体上,包括编码一种G蛋白亚基的基因以及参与磷脂酰肌醇循环的两种酶,它们与情感障碍的病理生理学以及锂的作用有关,还有两个α-肾上腺素能受体。本研究调查了两个躁郁症家族中躁郁症与20号染色体上11个标记之间的连锁关系,未发现存在主要疾病等位基因的证据。在仅针对患者的两点分析中,单个微卫星标记D20S39在每个家族的所有模型中都产生了正的对数优势分数。然而,侧翼标记的两点分析或仅针对患者的多点分析并未支持这一结果。在假设显性或隐性遗传模式的情况下,未发现躁郁症与覆盖20号染色体的标记之间存在连锁关系的证据。