Hildebrandt Friedhelm, Heeringa Saskia F, Rüschendorf Franz, Attanasio Massimo, Nürnberg Gudrun, Becker Christian, Seelow Dominik, Huebner Norbert, Chernin Gil, Vlangos Christopher N, Zhou Weibin, O'Toole John F, Hoskins Bethan E, Wolf Matthias T F, Hinkes Bernward G, Chaib Hassan, Ashraf Shazia, Schoeb Dominik S, Ovunc Bugsu, Allen Susan J, Vega-Warner Virginia, Wise Eric, Harville Heather M, Lyons Robert H, Washburn Joseph, Macdonald James, Nürnberg Peter, Otto Edgar A
Department of Pediatrics, University of Michigan School of Medicine, Ann Arbor, Michigan, United States of America.
PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23.
The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome these limitations, we apply homozygosity mapping to single affected individuals from outbred populations. In 72 individuals of 54 kindred ascertained worldwide with known homozygous mutations in 13 different recessive disease genes, we performed total genome homozygosity mapping using 250,000 SNP arrays. Likelihood ratio Z-scores (ZLR) were plotted across the genome to detect ZLR peaks that reflect segments of homozygosity by descent, which may harbor the mutated gene. In 93% of cases, the causative gene was positioned within a consistent ZLR peak of homozygosity. The number of peaks reflected the degree of inbreeding. We demonstrate that disease-causing homozygous mutations can be detected in single cases from outbred populations within a single ZLR peak of homozygosity as short as 2 Mb, containing an average of only 16 candidate genes. As many specialty clinics have access to cohorts of individuals from outbred populations, and as our approach will result in smaller genetic candidate regions, the new strategy of homozygosity mapping in single outbred individuals will strongly accelerate the discovery of novel recessive disease genes.
通过纯合性定位来识别隐性致病基因常常受到缺乏合适近亲家庭的限制。为了克服这些限制,我们将纯合性定位应用于远交群体中的单个患病个体。在全球范围内确定的54个家系的72名个体中,已知他们在13种不同的隐性疾病基因中存在纯合突变,我们使用250,000个单核苷酸多态性(SNP)阵列进行了全基因组纯合性定位。绘制全基因组的似然比Z分数(ZLR),以检测反映同源纯合片段的ZLR峰值,这些片段可能包含突变基因。在93%的病例中,致病基因位于一致的纯合性ZLR峰值范围内。峰值数量反映了近亲繁殖程度。我们证明,在远交群体的单个病例中,在短至2 Mb的单个纯合性ZLR峰值内可以检测到致病的纯合突变,该峰值平均仅包含16个候选基因。由于许多专科诊所能够获取远交群体的个体队列,并且由于我们的方法将产生更小的遗传候选区域,因此在单个远交个体中进行纯合性定位的新策略将极大地加速新型隐性疾病基因的发现。