A genomewide scan of male sexual orientation
A genomewide scan of male sexual orientation
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DOI：
10.1007/s00439-004-1241-4
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发表时间：
2005-03-01
期刊：
影响因子：
5.3
通讯作者：
Hamer, DH
中科院分区：
文献类型：
--
作者：
Mustanski, BS;DuPree, MG;Hamer, DH
这是第一份关于男性性取向全基因组扫描的报告。来自146个家庭，有两个或两个以上的同性恋兄弟的456个人的样本进行了基因型与403微卫星标记在10厘米的间隔。考虑到先前报道的性取向传播的母体负荷证据可能表明表观遗传因素作用于常染色体基因，最大似然估计（mlod）评分分别计算母体、父亲和联合传播。最高的mlod得分为3.45，在7q36的D7S798附近的位置，具有大致相等的母亲和父亲的贡献。第二高的mlod得分为1.96，位于8p12中D8S505附近，再次具有相等的母亲和父亲贡献。在10q26的标记D10S217附近发现了母体来源效应，母体减数分裂的mlod得分为1.81，没有父亲的贡献。我们没有在整个样本中发现与Xq28的联系，但考虑到先前报道的该区域的联系证据，我们进行了补充分析以澄清这些发现。首先，我们重新分析了以前报告的数据，发现mlod为6.47。然后，我们重新分析了我们目前的数据，在限制样本到以前报告的家庭，并发现一个mlod为1.99。这些Xq28的结果进行了详细讨论。首次对男性性取向行为特征的正常变异进行基因组筛查的结果，应该会鼓励人们努力在新样本中复制这些发现，这些新样本在建议的区域具有更密集的连锁图谱。
This is the first report of a full genome scan of sexual orientation in men. A sample of 456 individuals from 146 families with two or more gay brothers was genotyped with 403 microsatellite markers at 10-cM intervals. Given that previously reported evidence of maternal loading of transmission of sexual orientation could indicate epigenetic factors acting on autosomal genes, maximum likelihood estimations (mlod) scores were calculated separated for maternal, paternal, and combined transmission. The highest mlod score was 3.45 at a position near D7S798 in 7q36 with approximately equivalent maternal and paternal contributions. The second highest mlod score of 1.96 was located near D8S505 in 8p12, again with equal maternal and paternal contributions. A maternal origin effect was found near marker D10S217 in 10q26, with a mlod score of 1.81 for maternal meioses and no paternal contribution. We did not find linkage to Xq28 in the full sample, but given the previously reported evidence of linkage in this region, we conducted supplemental analyses to clarify these findings. First, we re-analyzed our previously reported data and found a mlod of 6.47. We then re-analyzed our current data, after limiting the sample to those families previously reported, and found a mlod of 1.99. These Xq28 findings are discussed in detail. The results of this first genome screen for normal variation in the behavioral trait of sexual orientation in males should encourage efforts to replicate these findings in new samples with denser linkage maps in the suggested regions.