Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.
复制标题
遗传性 X 连锁血小板减少症与 Wiskott-Aldrich 综合征位于同一染色体区域。
DOI：
10.1182/blood.v72.6.1849.bloodjournal7261849
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发表时间：
1988
期刊：
影响因子：
20.3
通讯作者：
Lars Holmberg
中科院分区：
文献类型：
--
作者：
M. Donnér;M. Schwartz;KU Carlsson;Lars Holmberg
遗传性X连锁血小板减少症可表现为孤立性血小板减少症或Wiskott-Aldrich综合征的一部分。我们在一个有8名受影响男性成员的家庭中研究了X连锁的血小板减少症，他们中没有一个人表现出对感染的易感性比IS更高。我们发现血小板减少症与DXS146之间存在显著的联系，DXS146是X染色体短臂近端的一种标记。曾被定位到相同的染色体区域。目前的研究结果表明，X连锁血小板减少症与HAS密切相关，甚至可能是由同一基因的不同突变引起的。我们发现特应性症状和免疫学变量在一些受影响的受试者中有轻微偏差，这支持了这一观点。
Hereditary X-linked thrombocytopenia occurs either as isolated thrombocytopenia or as a part of the Wiskott-Aldrich syndrome (WAS). We studied X-linked thrombocytopenia in a family with eight affected male members, none of whom exhibited the increased susceptibility to infection that occurs in WAS. We found a significant linkage between thrombocytopenia and DXS 146, a marker on the proximal part of the short arm of the X-chromosome. WAS has previously been mapped to the same chromosomal region. The present findings indicate that X-linked thrombocytopenia and WAS are closely related and may even be caused by different mutations of the same gene. This view is supported by our findings of atopic symptoms and minor deviations in immunologic variables among some of the affected subjects.
在免疫性血小板减少性紫癜和其他血小板减少性疾病中，通过 125I-葡萄球菌蛋白 A 定量血小板结合的 IgG。
影响因子：
20.3
作者：
Shaw,GM;Axelson,J;Maglott,JG;LoBuglio,AF
通讯作者：
LoBuglio,AF