Harrison G A, Humphrey K E, Jones N, Badenhop R, Guo G, Elakis G, Kaye J A, Turner R J, Grehan M, Wilton A N, Brennecke S P, Cooper D W
School of Biological Sciences, Macquarie University, North Ryde, New South Wales, Australia.
Am J Hum Genet. 1997 May;60(5):1158-67.
Preeclampsia (PE) and eclampsia (E) are potentially life-threatening conditions that can occur during human pregnancy. Generally considered to be different degrees of severity of the same disease process, the PE/E syndrome is thought to be predominantly genetic in origin, although its exact etiology and genetics are not fully understood. Here we report results of a genomewide linkage search for the gene(s) responsible for susceptibility to PE/E, using 15 informative pedigrees and 90 polymorphic DNA markers from all autosomes. Because of uncertainties concerning inheritance and diagnosis, four different models that assume maternal gene expression have been used to carry out LOD-score analysis. The region between D4S450 and D4S610 (2.8 cM) on the long arm of chromosome 4 was identified as a strong candidate region for a PE/E-susceptibility locus. The maximum multipoint LOD score within this interval was 2.9. Analysis of markers in the region around D4S450 and D4S610 by the affected-pedigree-member method also supported the possibility of a susceptibility locus in this region. However, to verify or exclude definitively linkage to this region, other groups of PE/E pedigrees will be required.
子痫前期（PE）和子痫（E）是人类妊娠期间可能危及生命的病症。PE/E综合征通常被认为是同一疾病过程的不同严重程度，虽然其确切病因和遗传学尚未完全了解，但一般认为主要起源于遗传因素。在此，我们报告了一项全基因组连锁搜索结果，该搜索旨在寻找导致PE/E易感性的基因，使用了15个信息丰富的家系和来自所有常染色体的90个多态性DNA标记。由于遗传和诊断方面的不确定性，已使用四种假设母系基因表达的不同模型进行LOD评分分析。位于4号染色体长臂上D4S450和D4S610之间的区域（2.8 cM）被确定为PE/E易感基因座的一个强候选区域。该区间内的最大多点LOD评分为2.9。通过受累家系成员法对D4S450和D4S610周围区域的标记进行分析，也支持了该区域存在易感基因座的可能性。然而，为了明确验证或排除与该区域的连锁关系，还需要其他PE/E家系组。
