Stone Jennifer L, Merriman Barry, Cantor Rita M, Yonan Amanda L, Gilliam T Conrad, Geschwind Daniel H, Nelson Stanley F
Department of Human Genetics, University of California, Los Angeles, CA 90095, USA.
Am J Hum Genet. 2004 Dec;75(6):1117-23. doi: 10.1086/426034. Epub 2004 Oct 5.
We investigated the genetic aspects of the large sex bias in the prevalence of autism spectrum disorder by monitoring changes in linkage when the family set for an affected sibling pair genome scan is subdivided on the basis of the sex of affected children. This produces a significant excess in the total number of linkage peaks (P=1.3 x 10(-8)) and identifies a major male-specific linkage peak at chromosome 17q11 (P<.01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases.
我们通过监测受影响同胞对基因组扫描的家庭集合根据受影响儿童的性别进行细分时连锁的变化,研究了自闭症谱系障碍患病率中巨大性别偏差的遗传因素。这导致连锁峰总数显著增加(P = 1.3 x 10(-8)),并在17号染色体q11区域识别出一个主要的男性特异性连锁峰(P <.01)。这些结果表明,性别差异是自闭症遗传学中的一个重要因素;相同的策略可用于探索其他表现出显著性别偏差的复杂疾病中的这种可能性。