Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies

Linda L. Bachinski; Antoine Abchee; Jean Bernard Durand; Robert Roberts; Ralf Krahe; Grace M. Hobson

doi:10.1006/mcpr.1996.0076

Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies

Linda L. Bachinski, Antoine Abchee, Jean Bernard Durand, Robert Roberts, Ralf Krahe, Grace M. Hobson

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

A trinucleotide repeat polymorphism in the MEF2A gene is described. MEF2A is expressed early in cardiac muscle development; thus the possibility of linkage between this Polymorphism and familial cardiomyopathies was investigated in three families not linked to genes coding for known sarcomeric proteins. MEF2A was excluded as a candidate for dilated cardiomyopathy (DCM) (LOD of -9.03) and hypertrophic cardiomyopathy (HCM) (LODs of -5.43 and -2.44) in these families. Because expansion of triplet repeats has been shown to be responsible for several inherited diseases, 121 unrelated HCM probands and 28 unrelated DCM probands were examined for evidence of expansion of this repeat. No expansion of this trinucleotide repeat was seen in any of the 149 cardiomyopathy probands.

Original language	English (US)
Pages (from-to)	55-58
Number of pages	4
Journal	Molecular and Cellular Probes
Volume	11
Issue number	1
DOIs	https://doi.org/10.1006/mcpr.1996.0076
State	Published - Feb 1997

Keywords

Cardiomyopathy
Dilated cardiomyopathy (DCM)
Hypertrophic cardiomyopathy (HCM)
MEF2A
Trinucleotide repeat

ASJC Scopus subject areas

Molecular Biology
Cell Biology

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10.1006/mcpr.1996.0076

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title = "Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies",

abstract = "A trinucleotide repeat polymorphism in the MEF2A gene is described. MEF2A is expressed early in cardiac muscle development; thus the possibility of linkage between this Polymorphism and familial cardiomyopathies was investigated in three families not linked to genes coding for known sarcomeric proteins. MEF2A was excluded as a candidate for dilated cardiomyopathy (DCM) (LOD of -9.03) and hypertrophic cardiomyopathy (HCM) (LODs of -5.43 and -2.44) in these families. Because expansion of triplet repeats has been shown to be responsible for several inherited diseases, 121 unrelated HCM probands and 28 unrelated DCM probands were examined for evidence of expansion of this repeat. No expansion of this trinucleotide repeat was seen in any of the 149 cardiomyopathy probands.",

keywords = "Cardiomyopathy, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), MEF2A, Trinucleotide repeat",

author = "Bachinski, {Linda L.} and Antoine Abchee and Durand, {Jean Bernard} and Robert Roberts and Ralf Krahe and Hobson, {Grace M.}",

note = "Funding Information: This work was supported in part by grants from the National Heart, Lung, and Blood Institute, Specialized Centers of Research (P50-HL42267-01). We would like to thank Dr Vicky Funanage and Dr Michael J. Siciliano, in whose laboratories portions of this work was done.",

year = "1997",

month = feb,

doi = "10.1006/mcpr.1996.0076",

language = "English (US)",

volume = "11",

pages = "55--58",

journal = "Molecular and Cellular Probes",

issn = "0890-8508",

publisher = "Academic Press Inc.",

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T1 - Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies

AU - Bachinski, Linda L.

AU - Abchee, Antoine

AU - Durand, Jean Bernard

AU - Roberts, Robert

AU - Krahe, Ralf

AU - Hobson, Grace M.

N1 - Funding Information: This work was supported in part by grants from the National Heart, Lung, and Blood Institute, Specialized Centers of Research (P50-HL42267-01). We would like to thank Dr Vicky Funanage and Dr Michael J. Siciliano, in whose laboratories portions of this work was done.

PY - 1997/2

Y1 - 1997/2

N2 - A trinucleotide repeat polymorphism in the MEF2A gene is described. MEF2A is expressed early in cardiac muscle development; thus the possibility of linkage between this Polymorphism and familial cardiomyopathies was investigated in three families not linked to genes coding for known sarcomeric proteins. MEF2A was excluded as a candidate for dilated cardiomyopathy (DCM) (LOD of -9.03) and hypertrophic cardiomyopathy (HCM) (LODs of -5.43 and -2.44) in these families. Because expansion of triplet repeats has been shown to be responsible for several inherited diseases, 121 unrelated HCM probands and 28 unrelated DCM probands were examined for evidence of expansion of this repeat. No expansion of this trinucleotide repeat was seen in any of the 149 cardiomyopathy probands.

AB - A trinucleotide repeat polymorphism in the MEF2A gene is described. MEF2A is expressed early in cardiac muscle development; thus the possibility of linkage between this Polymorphism and familial cardiomyopathies was investigated in three families not linked to genes coding for known sarcomeric proteins. MEF2A was excluded as a candidate for dilated cardiomyopathy (DCM) (LOD of -9.03) and hypertrophic cardiomyopathy (HCM) (LODs of -5.43 and -2.44) in these families. Because expansion of triplet repeats has been shown to be responsible for several inherited diseases, 121 unrelated HCM probands and 28 unrelated DCM probands were examined for evidence of expansion of this repeat. No expansion of this trinucleotide repeat was seen in any of the 149 cardiomyopathy probands.

KW - Cardiomyopathy

KW - Dilated cardiomyopathy (DCM)

KW - Hypertrophic cardiomyopathy (HCM)

KW - MEF2A

KW - Trinucleotide repeat

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DO - 10.1006/mcpr.1996.0076

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AN - SCOPUS:0031079998

SN - 0890-8508

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JO - Molecular and Cellular Probes

JF - Molecular and Cellular Probes

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ER -

Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies

Abstract

Keywords

ASJC Scopus subject areas

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