Department of Medical and Molecular Genetics, Indiana University, School of Medicine, Indianapolis, IN, USA.
BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S142. doi: 10.1186/1471-2156-6-S1-S142.
The simulated dataset of the Genetic Analysis Workshop 14 provided affection status and the presence or absence of 12 traits. It was determined that all affected individuals must have traits E, F and H (EFH phenotype) and they must also have either trait B (B subtype) or traits C, D, and G (CDG subtype). A genome screen was performed, and linkage peaks were identified on chromosomes 1, 3, 5, and 9 using microsatellite markers. Dense panels of single-nucleotide polymorphism (SNP) markers were ordered for each of the four linkage peaks. In each case, association analyses identified a single SNP that accounted for the linkage evidence. The SNP on chromosome 1 appeared to primarily influence the B subtype, while the SNPs on chromosomes 5 and 9 primarily influenced the CDG subtype. The chromosome 3 SNP had the strongest effect and influenced both subtypes, as well as the requisite EFH phenotype. Recognizing the two subtypes prior to linkage analysis was key to identifying these loci using only a single replicate. This highlights the need in real life situations for careful examination of the phenotypic data prior to genetic analysis.
遗传分析工作坊 14 提供的模拟数据集提供了情感状态以及 12 种特征的存在或缺失。确定所有受影响的个体必须具有特征 E、F 和 H（EFH 表型），并且它们还必须具有特征 B（B 亚型）或特征 C、D 和 G（CDG 亚型）。进行了全基因组筛查，并使用微卫星标记在染色体 1、3、5 和 9 上确定了连锁峰。为四个连锁峰中的每一个订购了密集的单核苷酸多态性 (SNP) 标记面板。在每种情况下，关联分析都确定了一个单一的 SNP，该 SNP 解释了连锁证据。1 号染色体上的 SNP 似乎主要影响 B 亚型，而 5 号和 9 号染色体上的 SNP 主要影响 CDG 亚型。3 号染色体上的 SNP 影响最大，影响了两个亚型以及必需的 EFH 表型。在连锁分析之前识别这两个亚型是使用单个重复仅识别这些基因座的关键。这突出表明，在实际情况下，在进行遗传分析之前，需要仔细检查表型数据。
