Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population
Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population
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DOI：
10.1073/pnas.191519098
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发表时间：
2001-09-25
影响因子：
11.1
通讯作者：
Chen, H
中科院分区：
文献类型：
--
作者：
McInnes, LA;Service, SK;Chen, H
我们通过研究具有最极端形式的受影响表型BP-I的个体来寻找诱发双相情感障碍（BP）的基因，BP-I是从哥斯达黎加的中央谷（CVCR）的遗传隔离人群中确定的。先前对两个扩展的CVCR BP-1家系CR 001和CR 004进行的连锁分析以及对BP-1患者的CVCR群体样本进行的连锁不平衡（LD）分析的结果表明，18p11.3上存在一个候选区域。我们进一步调查了这一地区，通过创建一个物理地图，并开发了4个新的微卫星和26个单核苷酸多态性标记，用于分型的系谱和人口样本。我们报告的结果，精细规模的关联分析的人口样本，以及评估单倍型的系谱CR 001。我们的研究结果表明，候选区域包含六个基因，但也突出了LD映射常见疾病的复杂性。
We have searched for genes predisposing to bipolar disorder (BP) by studying individuals with the most extreme form of the affected phenotype, BP-I, ascertained from the genetically isolated population of the Central Valley of Costa Rica (CVCR). The results of a previous linkage analysis on two extended CVCR BP-I pedigrees, CR001 and CR004, and of linkage disequilibrium (LD) analyses of a CVCR population sample of BP-1 patients implicated a candidate region on 18p11.3. We further investigated this region by creating a physical map and developing 4 new microsatellite and 26 single-nucleotide polymorphism markers for typing in the pedigree and population samples. We report the results of fine-scale association analyses in the population sample, as well as evaluation of haplotypes in pedigree CR001. Our results suggest a candidate region containing six genes but also highlight the complexities of LD mapping of common disorders.