对一个大型瑞典家族精神分裂症连锁的全基因组扫描进展。
Progress in a genome scan for linkage in schizophrenia in a large Swedish kindred.
作者信息
Barr C L, Kennedy J L, Pakstis A J, Wetterberg L, Sjögren B, Bierut L, Wadelius C, Wahlström J, Martinsson T, Giuffra L
机构信息
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
出版信息
Am J Med Genet. 1994 Mar 15;54(1):51-8. doi: 10.1002/ajmg.1320540110.
Genetic linkage studies of a kindred from Sweden segregating for schizophrenia have been performed using a genetic model (autosomal dominant, f = 0.72, q = 0.02, phenocopies = 0.001) as described in Kennedy et al., 1988. Analyses of the restriction fragment length polymorphism (RFLP), allele-specific oligonucleotides (ASO), and short tandem repeat (STR also called microsatellite) data for 180 polymorphisms (individual probe-enzyme, ASO, or STR systems) at 155 loci have been completed using the MLINK and LIPED programs. Linkage to schizophrenia was excluded, under the given model, at 47 loci; indeterminate lod scores occurred at 108 loci. The total exclusion region across 20 chromosomes is estimated at 330 cM; 211 cM excluded by pairwise analyses and 119 cM previously excluded by multipoint analyses (Kennedy et al., 1989: Schizophr Bull 15:383-391; Moises et al. 1991: Genet Epidemiol 2:99-110; Hallmayer et al., 1992: Arch Gen Psychiatry 49:216-219).
利用肯尼迪等人在1988年所描述的遗传模型（常染色体显性，f = 0.72，q = 0.02，拟表型 = 0.001），对瑞典一个患有精神分裂症的家族进行了遗传连锁研究。使用MLINK和LIPED程序，已完成对155个位点上180种多态性（单个探针 - 酶、等位基因特异性寡核苷酸或短串联重复序列，短串联重复序列也称为微卫星）的限制性片段长度多态性（RFLP）、等位基因特异性寡核苷酸（ASO）和短串联重复序列（STR）数据的分析。在给定模型下，排除了47个位点与精神分裂症的连锁关系；108个位点出现了不确定的lod分数。估计20条染色体上的总排除区域为330厘摩；通过成对分析排除了211厘摩，之前通过多点分析排除了119厘摩（肯尼迪等人，1989年：《精神分裂症通报》15:383 - 391；莫伊塞斯等人，1991年：《遗传流行病学》2:99 - 110；哈尔迈尔等人，1992年：《普通精神病学文献》49:216 - 219）。
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