| Title |
Localisation of the myotonic dystrophy locus to 19q13.2–19q13.3 and its relationship to twelve polymorphic loci on 19q
|
|---|---|
| Published in |
Human Genetics, January 1991
|
| DOI | 10.1007/bf01213096 |
| Pubmed ID | |
| Authors |
Helen G. Harley, Kate V. Walsh, Shelley Rundle, J. David Brook, Manssor Sarfarazi, Manuela C. Koch, Jo L. Floyd, Peter S. Harper, Duncan J. Shaw |
| Abstract |
The order of fourteen polymorphic markers localised to the long arm of human chromosome 19 has been established by multipoint mapping in a set of 40 CEPH (Centre d'Etude de Polymorphisme Humain, Paris) reference families. We report here the linkage relationship of the myotonic dystrophy (DM) locus to twelve of these markers as studied in 45 families with DM. The resulting genetic map is supported by the localisation of the DNA markers in a panel of somatic cell hybrids. Ten of the twelve markers have been shown to be proximal to the DM gene and two, PRKCG and D19S22, distal but at distances of approximately 25 cM and 15 cM, respectively. The closest proximal markers are APOC2 (apolipoprotein C-II) and CKM (creatine kinase, muscle) approximately 3 cM and 2 cM from the DM gene respectively, in the order APOC2-CKM-DM. The distance between APOC2, CKM and DM (of the order of 2 million base pairs) and their known orientation should permit directional chromosome walking and jumping. The data presented here should enable us to determine whether or not new markers are distal to APOC2/CKM and thus potentially flank the DM gene. |
Mendeley readers
The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 17 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 3 | 18% |
| Professor | 2 | 12% |
| Student > Master | 2 | 12% |
| Student > Ph. D. Student | 2 | 12% |
| Student > Doctoral Student | 1 | 6% |
| Other | 2 | 12% |
| Unknown | 5 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Chemistry | 4 | 24% |
| Medicine and Dentistry | 3 | 18% |
| Agricultural and Biological Sciences | 2 | 12% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 6% |
| Biochemistry, Genetics and Molecular Biology | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 6 | 35% |
Attention Score in Context
This research output has an Altmetric Attention Score of 10. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 February 2021.
All research outputs
#2,937,113
of 22,787,797 outputs
Outputs from Human Genetics
#263
of 2,953 outputs
Outputs of similar age
#1,969
of 59,445 outputs
Outputs of similar age from Human Genetics
#3
of 14 outputs
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