A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis
A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis
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DOI：
10.1086/318194
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发表时间：
2001-02-01
影响因子：
9.8
通讯作者：
Vance, JM
中科院分区：
文献类型：
--
作者：
Allingham, RR;Seo, B;Vance, JM
遗传性良性上皮内角化不良（HBID）是一种常染色体显性遗传病，其特征是眼部和口腔粘膜上皮斑块升高。据报道，它主要发生在北卡罗来纳州的美国印第安人身上，但并非唯一。我们已经检查并获得了受HBID影响的两个大家庭的DNA。通过遗传连锁分析，我们将HBID基因定位在4号染色体（4q35）上，LOD值为8.97。这些数据的分子分析显示，两个家族中所有HBID患者都存在两个紧密相连的标记D4S1652和D4S2390的三个等位基因，这两个等位基因映射到4q35的端粒区域。这表明存在与疾病表型的重复分离，这很可能与其病因有关。
Hereditary benign intraepithelial dyskeratosis (HBID) is an autosomal dominant disorder characterized by elevated epithelial plaques on the ocular and oral mucous membranes. It has been reported primarily, but not exclusively, in individuals of American Indian heritage in North Carolina. We have examined and obtained DNA on two large families affected by HBID. Using genetic linkage analysis we have localized the HBID gene to chromosome 4 (4q35) with a peak LOD score of 8.97. Molecular analysis of these data reveals that all individuals affected with HBID in both families demonstrate the presence of three alleles for two tightly linked markers, D4S1652 and D4S2390, which map to the telomeric region of 4q35. This suggests the presence of a duplication segregating with the disease phenotype that is most likely involved in its causation.