Further exclusion of FSHD1B from the telomeric region of 10q

Marcy C. Speer; Margaret A. Pericak-Vance; Jeffrey M. Stajich; Jennifer Sarrica; Matthew Jordan; Allen D. Roses; Jeffery M. Vance; John R. Gilbert

doi:10.1007/s100480050023

Further exclusion of FSHD1B from the telomeric region of 10q

Marcy C. Speer, Margaret A. Pericak-Vance, Jeffrey M. Stajich, Jennifer Sarrica, Matthew Jordan, Allen D. Roses, Jeffery M. Vance, John R. Gilbert

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article

2 Scopus citations

Abstract

The localization of the gene for the majority of cases of facioscapulohumeral muscular dystrophy is established as 4q35-qter (FSHD1A), although locus heterogeneity has been demonstrated with a minority of families unlinked to 4q. In FSHD1A, the disease is associated with a deletion of 3.3 kb repeats from a tandem repeat located near the as-yet-unidentified gene. This repeat cross-hybridizes with a telomeric region on 10q, making this cross-hybridizing region a feasible candidate gene for FSHD1B. We have tested the most telomeric marker on 10q (sAVA4) and excluded ∼17 cM on either side of this marker as harboring the FSHD1B gene.

Original language	English (US)
Pages (from-to)	151-152
Number of pages	2
Journal	Neurogenetics
Volume	1
Issue number	2
DOIs	https://doi.org/10.1007/s100480050023
State	Published - Jan 1 1997

Keywords

Facioscapulohumeral muscular dystrophy
Heterogeneity
Linkage analysis

ASJC Scopus subject areas

Genetics(clinical)
Neuroscience(all)

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10.1007/s100480050023

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Speer, M. C., Pericak-Vance, M. A., Stajich, J. M., Sarrica, J., Jordan, M., Roses, A. D., Vance, J. M., & Gilbert, J. R. (1997). Further exclusion of FSHD1B from the telomeric region of 10q. Neurogenetics, 1(2), 151-152. https://doi.org/10.1007/s100480050023

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abstract = "The localization of the gene for the majority of cases of facioscapulohumeral muscular dystrophy is established as 4q35-qter (FSHD1A), although locus heterogeneity has been demonstrated with a minority of families unlinked to 4q. In FSHD1A, the disease is associated with a deletion of 3.3 kb repeats from a tandem repeat located near the as-yet-unidentified gene. This repeat cross-hybridizes with a telomeric region on 10q, making this cross-hybridizing region a feasible candidate gene for FSHD1B. We have tested the most telomeric marker on 10q (sAVA4) and excluded ∼17 cM on either side of this marker as harboring the FSHD1B gene.",

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AU - Speer, Marcy C.

AU - Pericak-Vance, Margaret A.

AU - Stajich, Jeffrey M.

AU - Sarrica, Jennifer

AU - Jordan, Matthew

AU - Roses, Allen D.

AU - Vance, Jeffery M.

AU - Gilbert, John R.

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AB - The localization of the gene for the majority of cases of facioscapulohumeral muscular dystrophy is established as 4q35-qter (FSHD1A), although locus heterogeneity has been demonstrated with a minority of families unlinked to 4q. In FSHD1A, the disease is associated with a deletion of 3.3 kb repeats from a tandem repeat located near the as-yet-unidentified gene. This repeat cross-hybridizes with a telomeric region on 10q, making this cross-hybridizing region a feasible candidate gene for FSHD1B. We have tested the most telomeric marker on 10q (sAVA4) and excluded ∼17 cM on either side of this marker as harboring the FSHD1B gene.

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