Ewald H, Degn B, Mors O, Kruse T A
Institute for Basic Psychiatric Research, Department of Psychiatric Demography, Skovagervej, Risskov, Denmark.
Psychiatr Genet. 1998 Autumn;8(3):131-40. doi: 10.1097/00041444-199800830-00002.
Chromosome 12q23-q24.1 has been implied by a few linkage and association studies as a candidate region for affective disorder. The present study investigated for linkage between bipolar affective disorder and 16 microsatellite markers covering chromosome 12q22-q24 in two Danish families. Assuming homogeneity and a dominant mode of inheritance, a significant two-point lod score of 3.37 was found at D12S1639, when only bipolar patients were considered as affected. The lod score was supported by neighbouring markers. The empirical P-value for this lod score was 0.00002. Non-parametric analyses using SimIBD supported this finding, with P-values of 0.00003 and 0.005 at D12S1639. An overlapping segment of chromosome 12q24 was shared among all except one of the bipolar patients, with apparently different haplotypes in each family.
12号染色体q23-q24.1区域已被一些连锁和关联研究暗示为情感障碍的候选区域。本研究在两个丹麦家庭中调查了双相情感障碍与覆盖12号染色体q22-q24的16个微卫星标记之间的连锁关系。假设遗传同质性和显性遗传模式,当仅将双相情感障碍患者视为患病个体时,在D12S1639处发现显著的两点连锁对数得分为3.37。相邻标记支持该连锁对数得分。该连锁对数得分的经验P值为0.00002。使用SimIBD进行的非参数分析支持了这一发现,在D12S1639处的P值分别为0.00003和0.005。除一名双相情感障碍患者外,所有患者均共享12号染色体q24的一个重叠片段,每个家庭中的单倍型明显不同。