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Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers
Author(s) -
Mouglabey Yolla Bou,
Nimri Sawsan,
Sayegh Fouad,
Zir Elie El,
Slim Rima
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb03720.x
Subject(s) - usher syndrome , genetics , retinitis pigmentosa , gene , biology , exon , microsatellite , gene mapping , genetic linkage , allele , chromosome
Usher syndrome (US) is clinically and genetically a heterogeneous group of disorders characterized by the association of deafness with retinitis pigmentosa. So far, eight genes responsible for US have been mapped, of which only the gene responsible for the most common form, USH1B, has been identified. The USH1B is a large gene containing 49 exons and encoding for an unconventional myosin‐VIIA (MYO7A). Mutation analysis within the MYO7A gene showed a wide variety of mutations dispersed all over the gene. The present report refines the location of the MYO7A gene relative to microsatellite markers mapped to this region, thereby allowing a reliable and efficient carrier detection by linkage analysis.