TY - JOUR
T1 - Localization of Usher syndrome type II to chromosome 1q
AU - Kimberling, William J.
AU - Weston, Michael D.
AU - Möller, Claes
AU - Davenport, Sandra L.H.
AU - Shugart, Yin Y.
AU - Priluck, Ira A.
AU - Martini, Alessandro
AU - Milani, Massimo
AU - Smith, Richard J.
N1 - Funding Information:
We thank K. Biscone-Halterman, J. B. Kenyon, C. Asleson, L. Overbeck, K. Brennan, K. McBrown, D. Heubner, and M. Temp for their technical expertise. We also thank Dr. J. Ott for his helpful suggestions regarding the analysis. Sincere appreciation is extended to the families studied for their willing cooperation in these investigations. The three DNA probes discussed in this paper were purchased from the American Type Tissue Collection (ATCC), Rockville, Maryland. This study was supported in part by Grant P50 DC00215 from the National Institutes of Deafness and Other Communication Disorders and in part by a grant from the Retinitis Pigmentosa and the George Gund Foundations. The Deafness Research Foundation provided support to the National Research Registry for Hereditary Hearing Loss from which some of the families were ascertained.
PY - 1990/6
Y1 - 1990/6
N2 - 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.
AB - 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.
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U2 - 10.1016/0888-7543(90)90546-7
DO - 10.1016/0888-7543(90)90546-7
M3 - Article
C2 - 2347588
AN - SCOPUS:0025308736
SN - 0888-7543
VL - 7
SP - 245
EP - 249
JO - Genomics
JF - Genomics
IS - 2
ER -