Coon H, Myles-Worsley M, Tiobech J, Hoff M, Rosenthal J, Bennett P, Reimherr F, Wender P, Dale P, Polloi A, Byerley W
Department of Psychiatry, University of Utah School of Medicine, Salt Lake City 84132, USA.
Mol Psychiatry. 1998 Nov;3(6):521-7. doi: 10.1038/sj.mp.4000453.
A large multiplex schizophrenia pedigree ascertained from the Micronesian nation of Palau was genotyped with 406 microsatellite DNA markers evenly distributed throughout the genome. Assuming autosomal dominant inheritance, the highest genome-wide lod scores were found for DNA loci mapping to 2p13-14; the maximum lod score was 2.17 (theta = 0.05) at D2S441. A nonparametric APM analysis was also suggestive at D2S441 (APM score = 2.96, P = 0.011). Of the 14 affected cases in this extended family, eight share a large haplotype in this region spanning approximately 11 cM. When 16 other families containing 65 schizophrenic cases were typed in a follow-up study of this region, the maximum lod score remained positive (maximum at D2S441 1.69, theta = 0.20). APM results also remained positive at D2S441 for all 17 families (APM score = 4.87, P = 0.0006). The linkage and haplotype sharing results provide suggestive evidence for a 2p locus predisposing to schizophrenia in a subset of families in the Palauan population.
对一个来自密克罗尼西亚国家帕劳的大型多重精神分裂症家系进行基因分型，使用了406个均匀分布于整个基因组的微卫星DNA标记。假设为常染色体显性遗传，在定位到2p13 - 14的DNA位点发现全基因组最高连锁值；在D2S441处最大连锁值为2.17（θ = 0.05）。在D2S441处进行的非参数APM分析也有提示意义（APM评分 = 2.96，P = 0.011）。在这个大家庭的14例患病病例中，有8例在该区域共享一个约11厘摩的大单体型。在对该区域的后续研究中，对另外16个包含65例精神分裂症病例的家系进行分型时，最大连锁值仍为阳性（在D2S441处最大为1.69，θ = 0.20）。对所有17个家系在D2S441处的APM结果也仍为阳性（APM评分 = 4.87，P = 0.0006）。连锁和单体型共享结果为帕劳人群中一部分家系里一个易患精神分裂症的2p位点提供了提示性证据。
