Coucke P, Van Camp G, Demirhan O, Kabakkaya Y, Balemans W, Van Hauwe P, Van Agtmael T, Smith R J, Parving A, Bolder C H, Cremers C W, Willems P J
Department of Medical Genetics, University of Antwerp-UIA, Belgium.
Genomics. 1997 Feb 15;40(1):48-54. doi: 10.1006/geno.1996.4541.
Pendred syndrome is an autosomal recessive disorder characterized by goiter and congenital deafness. The primary defect is not yet known, although the gene causing Pendred syndrome has been localized very recently on chromosome 7q, a region that also contains a gene responsible for nonsyndromal hearing loss (DFNB4). We confirmed linkage to this chromosome 7 region in five Pendred families originating from different ethnic groups, with a highest cumulative lod score of 8.26 for marker D7S501. In combination with previous reports, our results define a candidate region for the Pendred gene of 1.7 cM flanked by markers D7S501 and D7S692.
彭德莱德综合征是一种常染色体隐性疾病，其特征为甲状腺肿和先天性耳聋。尽管导致彭德莱德综合征的基因最近已被定位到7号染色体长臂上，该区域还包含一个导致非综合征性听力损失（DFNB4）的基因，但主要缺陷尚不清楚。我们在来自不同种族的五个彭德莱德家族中证实了与该7号染色体区域的连锁关系，标记D7S501的最高累积对数分数为8.26。结合之前的报告，我们的结果确定了一个1.7厘摩的彭德莱德基因候选区域，两侧分别为标记D7S501和D7S692。
