Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease

Teepu Siddique, Helen Roper, Margaret A Pericak-Vance, John Shaw, Katherine L. Warner, Wu Yen Hung, Kenneth L. Phillips, Peter Lunt, W. J Kenneth Cumming, Allen D. Roses

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Facioscapulohumeral disease is probably a heterogeneous disorder. We have ascertained and sampled two multigeneration families with the neurogenic form of this disorder, considered to be a type of spinal muscular atrophy (FSHSMA). The two families have 36 affected members. Linkage studies with 10 expressed and seven DNA restriction fragment length polymorphism (RFLP) markers failed to show significant linkage (Zmax≥3-00). However, two areas of probable linkage were defined on chromosomes lp and 4q with the markers MNS (Z max=l-47 at Theta;max=0.10) and PGM1 (Zmax=0.94 at theta;max=0.001) respectively. We are using additional RFLPs from these and other areas of the human genome to screen these families for linkage to FSHSMA.

Original languageEnglish
Pages (from-to)487-489
Number of pages3
JournalJournal of Medical Genetics
Volume26
Issue number8
DOIs
StatePublished - Jan 1 1989
Externally publishedYes

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Restriction Fragment Length Polymorphisms
Disease
Spinal Muscular Atrophy
Phentolamine
Human Genome
Chromosomes
DNA
Facioscapulohumeral Type Spinal Muscular Atrophy

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health
  • Health(social science)
  • Genetics
  • Genetics(clinical)

Cite this

Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease. / Siddique, Teepu; Roper, Helen; Pericak-Vance, Margaret A; Shaw, John; Warner, Katherine L.; Hung, Wu Yen; Phillips, Kenneth L.; Lunt, Peter; Cumming, W. J Kenneth; Roses, Allen D.

In: Journal of Medical Genetics, Vol. 26, No. 8, 01.01.1989, p. 487-489.

Research output: Contribution to journalArticle

Siddique, T, Roper, H, Pericak-Vance, MA, Shaw, J, Warner, KL, Hung, WY, Phillips, KL, Lunt, P, Cumming, WJK & Roses, AD 1989, 'Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease', Journal of Medical Genetics, vol. 26, no. 8, pp. 487-489. https://doi.org/10.1136/jmg.26.8.487
Siddique, Teepu ; Roper, Helen ; Pericak-Vance, Margaret A ; Shaw, John ; Warner, Katherine L. ; Hung, Wu Yen ; Phillips, Kenneth L. ; Lunt, Peter ; Cumming, W. J Kenneth ; Roses, Allen D. / Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease. In: Journal of Medical Genetics. 1989 ; Vol. 26, No. 8. pp. 487-489.
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