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 › peer-review

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 - 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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title = "Further exclusion of FSHD1B from the telomeric region of 10q",

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.",

keywords = "Facioscapulohumeral muscular dystrophy, Heterogeneity, Linkage analysis",

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

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T1 - Further exclusion of FSHD1B from the telomeric region of 10q

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.

PY - 1997

Y1 - 1997

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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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KW - Heterogeneity

KW - Linkage analysis

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