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Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14.

作者信息

Lunt P W, Noades J G, Upadhyaya M, Sarfarazi M, Harper P S

机构信息

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, U.K.

出版信息

J Neurol Sci. 1988 Dec;88(1-3):287-92. doi: 10.1016/0022-510x(88)90225-0.

Abstract

A panel of 399 individuals from 24 kindreds with facioscapulohumeral muscular dystrophy (FSHD) has been established for genetic linkage studies. A previous suggestion of linkage on the distal long arm of chromosome 14 to the locus (IGHG) for the constant region of the heavy chain of IgG immunoglobulin was tested from serum Gm allotypes and from DNA analysis using an IGHG DNA probe. After applying an age-dependent weighting for presently unaffected but at risk individuals close linkage between the IGHG and FSHD loci was excluded.

摘要

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