Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome |
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| Authors: | C. Espinós J. M. Millán F. Sánchez M. Beneyto C. Nájera |
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| Affiliation: | (1) Departamento de Genética, Fac. C.C. Biológicas, c/o Dr. Moliner, 50. 46100 Burjassot, Universidad de Valencia, Valencia, Spain e-mail: Carmen.Najera@uv.es, Tel.: +34 6 3864506, Fax: +34 6 3983029, ES;(2) Unidad de Genética y Diagnóstico Prenatal. Hospital La Fe. Valencia, Spain, ES |
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| Abstract: | In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons. A mutation (Ala397Asp) segregating with the disease was identified, and several polymorphisms were also detected. It is presumed that the other USH1B mutations in these families could be located in the unscreened regions of the gene. Received: 10 November 1997 / Accepted: 15 March 1998 |
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