1. |
|
|
2. |
|
|
3. |
|
|
4. |
- Kimberling, W. J., et al.
(författare)
-
Genetic studies of Usher syndrome
- 1991
-
Ingår i: Annals of the New York Academy of Sciences. - : Wiley. - 0077-8923 .- 1749-6632. ; 630:1, s. 167-175
-
Tidskriftsartikel (refereegranskat)
|
|
5. |
|
|
6. |
- Kimberling, William J., et al.
(författare)
-
Localization of Usher syndrome type II to chromosome 1q
- 1990
-
Ingår i: Genomics. - : Elsevier BV. - 0888-7543 .- 1089-8646. ; 7:2, s. 245-249
-
Tidskriftsartikel (refereegranskat)abstract
- 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.
|
|
7. |
|
|
8. |
|
|