Abstract
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy. Linkage analysis has assigned EDMD to the terminal region of the human X chromosome long arm. We report here further linkage analysis in two multigenerational EDMD families using seven Xq28 marker loci. Cumulative lod scores suggest that EDMD is approximately 2 cM from DXS52 (lod = 15.67) and very close to the factor VIII (F8C) and the red/green color pigment (R/GCP) loci, with respective lod scores of 9.62 and 10.77, without a single recombinant. Several recombinations between EDMD and three proximal Xq28 markers suggest that the EDMD gene is located in distal Xq28. Multipoint linkage analysis indicates that the odds are 2,000:1 that EDMD lies distal to DXS305. These data substantially refine the ability to perform accurate carrier detection, prenatal diagnosis, and the presymptomatic diagnosis of at-risk males for EDMD by linkage analysis. The positioning of the EDMD locus close to the loci for F8C and R/GCP will assist in future efforts to identify and isolate the disease gene.
| Original language | English |
|---|---|
| Pages (from-to) | 468-480 |
| Number of pages | 13 |
| Journal | American Journal of Human Genetics |
| Volume | 48 |
| Issue number | 3 |
| Publication status | Published - Mar 1991 |
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ASJC Scopus subject areas
- Genetics
Cite this
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28 : The results of a collaborative study. / Consalez, G. Giacomo; Thomas, Nick S T; Stayton, Carol L.; Knight, Samantha J L; Johnson, Mae; Hopkins, Linton C.; Harper, Peter S.; Elsas, Louis J.; Warren, Stephen T.
In: American Journal of Human Genetics, Vol. 48, No. 3, 03.1991, p. 468-480.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28
T2 - The results of a collaborative study
AU - Consalez, G. Giacomo
AU - Thomas, Nick S T
AU - Stayton, Carol L.
AU - Knight, Samantha J L
AU - Johnson, Mae
AU - Hopkins, Linton C.
AU - Harper, Peter S.
AU - Elsas, Louis J.
AU - Warren, Stephen T.
PY - 1991/3
Y1 - 1991/3
N2 - Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy. Linkage analysis has assigned EDMD to the terminal region of the human X chromosome long arm. We report here further linkage analysis in two multigenerational EDMD families using seven Xq28 marker loci. Cumulative lod scores suggest that EDMD is approximately 2 cM from DXS52 (lod = 15.67) and very close to the factor VIII (F8C) and the red/green color pigment (R/GCP) loci, with respective lod scores of 9.62 and 10.77, without a single recombinant. Several recombinations between EDMD and three proximal Xq28 markers suggest that the EDMD gene is located in distal Xq28. Multipoint linkage analysis indicates that the odds are 2,000:1 that EDMD lies distal to DXS305. These data substantially refine the ability to perform accurate carrier detection, prenatal diagnosis, and the presymptomatic diagnosis of at-risk males for EDMD by linkage analysis. The positioning of the EDMD locus close to the loci for F8C and R/GCP will assist in future efforts to identify and isolate the disease gene.
AB - Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy. Linkage analysis has assigned EDMD to the terminal region of the human X chromosome long arm. We report here further linkage analysis in two multigenerational EDMD families using seven Xq28 marker loci. Cumulative lod scores suggest that EDMD is approximately 2 cM from DXS52 (lod = 15.67) and very close to the factor VIII (F8C) and the red/green color pigment (R/GCP) loci, with respective lod scores of 9.62 and 10.77, without a single recombinant. Several recombinations between EDMD and three proximal Xq28 markers suggest that the EDMD gene is located in distal Xq28. Multipoint linkage analysis indicates that the odds are 2,000:1 that EDMD lies distal to DXS305. These data substantially refine the ability to perform accurate carrier detection, prenatal diagnosis, and the presymptomatic diagnosis of at-risk males for EDMD by linkage analysis. The positioning of the EDMD locus close to the loci for F8C and R/GCP will assist in future efforts to identify and isolate the disease gene.
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UR - http://www.scopus.com/inward/citedby.url?scp=0026079202&partnerID=8YFLogxK
M3 - Article
C2 - 1998333
AN - SCOPUS:0026079202
VL - 48
SP - 468
EP - 480
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 3
ER -