A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.

Upadhyaya, M, Lunt, P W, Sarfarazi, M, Broadhead, W, Daniels, J, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Harper, P S 1991. A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q. Journal of Medical Genetics 28 (10) , pp. 665-671. 10.1136/jmg.28.10.665

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Abstract

Close linkage of a hypervariable DNA probe on chromosome 4q (pH30, locus D4S139) has been found with the locus for facioscapulohumeral disease. Three recombinants were identified in a total of 140 meioses, giving a maximum lod score of 36.77 at a recombination fraction of 0.02. All but two of the families studied proved informative with this probe; all informative families showed evidence of linkage (except one family with a single scorable meiosis), making genetic heterogeneity unlikely from our data. The close linkage and highly informative nature of the probe will make it suitable for clinical application in presymptomatic and prenatal diagnosis. We have also confirmed loose linkage with the marker (Mfd22, locus D4S171) used to establish the initial assignment of the disorder to chromosome 4.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Publisher:	BMJ Publishing Group
ISSN:	1468-6244
Last Modified:	31 Oct 2022 09:25
URI:	https://orca.cardiff.ac.uk/id/eprint/80990

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