Baron M, Endicott J, Lerer B, Loth J E, Alexander J R, Simon R, Sharpe L, Gibbon M, Hasin D, Lilliston B
Columbia University College of Physicians and Surgeons, New York, NY.
Psychiatr Genet. 1994 Spring;4(1):43-55. doi: 10.1097/00041444-199421000-00007.
A series of 57 extended pedigrees with high density of bipolar affective disorder is described. Ascertainment and diagnostic procedures are documented and simulation studies to assess statistical power are carried out. The pedigrees, obtained in the US and Israel, are comprised of 1508 adult individuals with best estimate consensus diagnoses (12-71 relatives per pedigree), 490 of whom (including 401 sib pairs) meet criteria for a conservative disease definition (bipolar disorder or recurrent major depression). Cell lines have been established on 1324 of these individuals. Statistical power to detect linkage with lod score analysis, assuming autosomal dominant transmission and highly polymorphic DNA markers, is nearly 100% for alpha (proportion of linked families) = 30%, and 75% for alpha = 20%. This is the largest bipolar pedigree series reported to date; its unique features make it amenable to various gene detection techniques.
本文描述了一系列57个双相情感障碍高密度的扩展家系。记录了确定和诊断程序，并进行了模拟研究以评估统计功效。这些家系来自美国和以色列，由1508名成年个体组成，他们具有最佳估计的共识诊断结果（每个家系有12 - 71名亲属），其中490人（包括401对同胞对）符合保守疾病定义标准（双相情感障碍或复发性重度抑郁症）。已在其中1324名个体上建立了细胞系。假设常染色体显性遗传和高度多态性DNA标记，通过对数优势计分分析检测连锁的统计功效，对于α（连锁家系比例）= 30%时接近100%，对于α = 20%时为75%。这是迄今为止报道的最大的双相情感障碍家系系列；其独特特征使其适用于各种基因检测技术。
