Smith R J, Holcomb J D, Daiger S P, Caskey C T, Pelias M Z, Alford B R, Fontenot D D, Hejtmancik J F
Baylor College of Medicine, Houston, TX 77030.
Cytogenet Cell Genet. 1989;50(2-3):102-6. doi: 10.1159/000132733.
Usher syndrome is an autosomal recessive disease characterized by dual sensory impairments; affected individuals are born with a sensorineural hearing loss and ultimately lose their sight as retinitis pigmentosa develops. Conventional protein markers previously tested in a Louisiana Acadian kindred suggested tentative linkage to vitamin D-binding protein on chromosome 4. DNA linkage studies do not confirm this linkage relationship and exclude much of chromosome 4 as the site of the Usher syndrome gene in these families.
尤塞氏综合征是一种常染色体隐性疾病，其特征为双重感觉障碍；患者出生时患有感音神经性听力损失，最终随着色素性视网膜炎的发展而失明。此前在路易斯安那阿卡迪亚家族中检测的传统蛋白质标记表明，该疾病与4号染色体上的维生素D结合蛋白存在初步联系。DNA连锁研究并未证实这种连锁关系，并排除了4号染色体的大部分区域作为这些家族中尤塞氏综合征基因的位点。
