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Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.

作者信息

Espinós C, Millán J M, Sánchez F, Beneyto M, Nájera C

机构信息

Departamento de Genética, Fac. C.C. Biológicas, Universidad de Valencia, Spain.

出版信息

Hum Genet. 1998 Jun;102(6):691-4. doi: 10.1007/s004390050763.

DOI:10.1007/s004390050763
PMID:9703432
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 USHIB mutations in these families could be located in the unscreened regions of the gene.

摘要

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