| Autor: |
Kimberling WJ; Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131., Weston MD, Möller C, Davenport SL, Shugart YY, Priluck IA, Martini A, Milani M, Smith RJ |
| Jazyk: |
angličtina |
| Zdroj: |
Genomics [Genomics] 1990 Jun; Vol. 7 (2), pp. 245-9. |
| DOI: |
10.1016/0888-7543(90)90546-7 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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