Kimberling W J, Möller C G, Davenport S L, Lund G, Grissom T J, Priluck I, White V, Weston M D, Biscone-Halterman K, Brookhouser P E
Boys Town National Institute of Communication Disorders in Children, Omaha, NE 68131.
Laryngoscope. 1989 Jan;99(1):66-72. doi: 10.1288/00005537-198901000-00013.
The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.
遗传异质性问题是定位乌舍尔综合征相关基因时的一个关键问题。根据迄今为止对所研究家族获得的数据，就听觉和前庭功能而言，I型和II型乌舍尔综合征之间的差异显得颇为明显。尽管大多数家族能够被可靠地诊断为典型的I型或II型，但临床调查发现有四个家族的症状不符合这两种较常见的亚型中的任何一种。这些发现强调了在进行连锁研究的同时进行深入临床分析对于确保准确划分乌舍尔综合征亚型的至关重要性。基于仅对那些确诊为I型或II型乌舍尔综合征的家族进行的分析，约17%的基因组可被排除为I型基因的潜在位点，14%可被排除为II型基因的位点。这项研究将持续进行，直至成功定位乌舍尔综合征相关基因。
