A genomewide screen for autism susceptibility loci
A genomewide screen for autism susceptibility loci
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DOI：
10.1086/321980
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发表时间：
2001-08-01
影响因子：
9.8
通讯作者：
Gilliam, TC
中科院分区：
文献类型：
--
作者：
Liu, JJ;Nyholt, DR;Gilliam, TC
我们报道了110个自闭症多基因家系中335个微卫星标记的基因分型。所有家庭都包括至少两个受影响的兄弟姐妹，其中至少有一个患有自闭症；其余受影响的兄弟姐妹要么被诊断为阿斯伯格综合症，要么被诊断为广泛性发育障碍。受影响的同胞对分析显示，5、X和19号染色体上的多点最大LOD分数(MLS)达到了可接受的连锁阈值。在第2、3、4、8、10、11、12、15、16、18和20号染色体上获得了名义上的连锁证据，在第5和19号染色体上发现了次级座位。对推测的X染色体连锁座位和一个或多个其他连锁座位上共享等位基因的家系进行分析，DXS470-D19S174标记组合的MLS为3.56。为了提高检测连锁的能力，扫描统计被用来评估峰值LOD得分的重要性，其基础是相邻标记基因座的统计证据。这项分析得出了令人印象深刻的证据，证明自闭症和自闭症谱系障碍与全基因组P值显著相关
We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genome-wide P values