The genetics of Crohn disease: complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives.
The genetics of Crohn disease: complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives.
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克罗恩病的遗传学：对 265 名克罗恩病患者和 5,387 名亲属进行的家庭研究的复杂分离分析。
DOI：
10.1002/ajmg.1320320122
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Majewski,F
中科院分区：
文献类型：
--
作者：
Kuster,W;Pascoe,L;Purrmann,J;Funk,S;Majewski,F
我们分析了来自杜塞尔多夫大学专科诊所的265名克罗恩病先证者的家系。复杂的分离分析表明，存在一个不完全外显的隐性基因，是该病的易感性基因，没有家族相似的残留原因。然而，个别病例的一部分可能是由表观遗传引起的，这一比例在发病年龄较高的病例中最大。
We have analysed the pedigrees of 265 probands with Crohn disease, collected from a specialty clinic at the University of Dusseldorf. Complex segregation analysis suggests the presence of a recessive gene with incomplete penetrance for susceptibility to the disease with no residual causes of family resemblance. However, a proportion of the isolated cases are probably due to phenocopies, this proportion being greatest among cases with an advanced age of onset.