Dick Danielle M, Foroud Tatiana, Edenberg Howard J, Miller Marvin, Bowman Elizabeth, Rau N Leela, DePaulo J Raymond, McInnis Melvin, Gershon Elliot, McMahon Francis, Rice John P, Bierut Laura J, Reich Theodore, Nurnberger John
Indiana University School of Medicine, Indianapolis, Indiana 46202-4887, USA.
Am J Med Genet. 2002 May 8;114(4):407-12. doi: 10.1002/ajmg.10380.
Analyses of a replication sample of families collected as part of the National Institute of Mental Health (NIMH) Genetics Initiative for bipolar disorder provide further evidence for linkage to a region of chromosome 16. Families who had a bipolar I (BPI) proband and at least one BPI or schizoaffective, bipolar type (SABP) first-degree relative were ascertained for the purpose of identifying genes involved in bipolar affective disorder. A series of hierarchical models of affected status was used in linkage analyses. Initial genetic analyses of chromosomes 3, 5, 15, 16, 17, and 22, completed at Indiana University in 540 subjects from 97 families, suggested evidence of linkage to chromosomes 5, 16, and 22 [Edenberg et al., 1997: Am J Med Genet 74:238-246]. Genotyping was subsequently performed on these chromosomes in a replication sample of 353 individuals from 56 families. Nonparametric linkage analyses were performed using both affected relative and sibling pair methods. Analyses in the new sample on chromosome 16, using the broadest model of affected status, corroborate previously reported suggestive linkage to the marker D16S2619. Combining the initial and replication samples further increased the evidence of linkage to this region, with a peak lod score of 2.8.
作为美国国立精神卫生研究所（NIMH）双相情感障碍遗传学倡议项目的一部分，对所收集家庭的复制样本进行分析，为与16号染色体区域的连锁提供了进一步证据。为了确定参与双相情感障碍的基因，确定了有双相I型（BPI）先证者且至少有一名BPI或分裂情感性障碍双相型（SABP）一级亲属的家庭。连锁分析中使用了一系列患病状态的分层模型。1997年，印第安纳大学对97个家庭的540名受试者完成了对3、5、15、16、17和22号染色体的初步基因分析，提示与5、16和22号染色体存在连锁证据[伊登伯格等人，1997年：《美国医学遗传学杂志》74:238 - 246]。随后，对来自56个家庭的353名个体的复制样本在这些染色体上进行了基因分型。使用患病亲属和同胞对方法进行了非参数连锁分析。在新样本中，对16号染色体使用最宽泛的患病状态模型进行分析，证实了先前报道的与标记D16S2619的提示性连锁。将初始样本和复制样本合并，进一步增加了与该区域连锁的证据，最高对数优势分数为2.8。
