联系的重要性：连接哈特派谱系的各个组成部分。

The importance of connections: joining components of the Hutterite pedigree.

作者信息

Chapman N H, Leutenegger A L, Badzioch M D, Bogdan M, Conlon E M, Daw E W, Gagnon F, Li N, Maia J M, Wijsman E M, Thompson E A

机构信息

Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.

出版信息

Genet Epidemiol. 2001;21 Suppl 1:S230-5. doi: 10.1002/gepi.2001.21.s1.s230.

DOI:10.1002/gepi.2001.21.s1.s230

PMID:11793674

Abstract

We analyzed a quantitative trait (serum IgE levels), and a binary trait (asthma), in four Hutterite sub-pedigrees. A genome screen for asthma was performed using GENEHUNTER, and interesting regions were followed up using extended pedigrees and the FASTLINK package. Markov chain Monte Carlo (MCMC) methods were used to assess haplotype sharing among affected individuals (MORGAN/AUTOZYG), and to perform a combined oligogenic segregation and linkage analysis (LOKI) for log10(IgE). We found evidence for at least two susceptibility loci for asthma on chromosome 5, and a QTL for log10(IgE) on chromosome 1. Our analyses demonstrate that using the most complete pedigree structure possible is advisable, with attention to the possibility of heterogeneity among subunits of a very large pedigree.

摘要

我们在四个哈特派分支家系中分析了一个数量性状（血清IgE水平）和一个二元性状（哮喘）。使用GENEHUNTER对哮喘进行全基因组筛查，并利用扩展家系和FASTLINK软件包对感兴趣的区域进行后续研究。采用马尔可夫链蒙特卡罗（MCMC）方法评估患病个体之间的单倍型共享（MORGAN/AUTOZYG），并对log10（IgE）进行联合寡基因分离和连锁分析（LOKI）。我们发现5号染色体上至少有两个哮喘易感位点的证据，以及1号染色体上log10（IgE）的一个数量性状位点。我们的分析表明，尽可能使用最完整的家系结构是明智的，同时要注意非常大家系的亚单位之间存在异质性的可能性。