| First Author | Kimberling WJ | Year | 1990 |
| Journal | Genomics | Volume | 7 |
| Issue | 2 | Pages | 245-9 |
| PubMed ID | 2347588 | Mgi Jnum | J:23106 |
| Mgi Id | MGI:71283 | Doi | 10.1016/0888-7543(90)90546-7 |
| Citation | Kimberling WJ, et al. (1990) Localization of Usher syndrome type II to chromosome 1q. Genomics 7(2):245-9 |
| abstractText | Usher syndrome is characterized by congenital hearing loss, progressive visual impairment due to retinitis pigmentosa, and variable vestibular problems. The two subtypes of Usher syndrome, types I and II, can be distinguished by the degree of hearing loss and by the presence or absence of vestibular dysfunction. Type I is characterized by a profound hearing loss and totally absent vestibular responses, while type II has a milder hearing loss and normal vestibular function. Fifty-five members of eight type II Usher syndrome families were typed for three DNA markers in the distal region of chromosome 1q: D1S65 (pEKH7.4), REN (pHRnES1.9), and D1S81 (pTHH33). Statistically significant linkage was observed for Usher syndrome type II with a maximum multipoint lod score of 6.37 at the position of the marker THH33, thus localizing the Usher type II (USH2) gene to 1q. Nine families with type I Usher syndrome failed to show linkage to the same three markers. The statistical test for heterogeneity of linkage between Usher syndrome types I and II was highly significant, thus demonstrating that they are due to mutations at different genetic loci. |
