Linkage studies of Best's macular dystrophy

Freda E. Yoder, Harold E. Cross, Gary A. Chase, Stuart L. Fine, Linda Freidhoff, Carol H. Machan, Wilma B. Bias

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Genetic linkage studies are presented for nine kindreds with Best's vitelliform macular dystrophy (BVMD). This condition is an autosomal dominant macular dystrophy with reduced penetrance and highly variable expressivity. Asymptomatic carriers were identified with electrooculography, fundus photographs and fluorescein angiography. Blood and saliva specimens were obtained from informative family members and genotyped for 26 polymorphic genetic traits. No firm evidence was found for linkage between BVMD and 18 informative markers; the highest positive lod score was z=0.57 for GPT1 at a recombination fraction of θ=0.30. An atypical form of vitelliform macular dystrophy (VMD‐1) is linked to GPT1 (θ<0.05) and is provisionally assigned to chromosome 16pter‐p11. Our data are not sufficient to rule out loose linkage for GPT1 and BVMD. Thus we were not able to determine whether BVMD and VMD‐1 are allelic mutations or separate genetic disorders. Additional linkage and gene mapping studies of these loci and BVMD (as well as other atypical forms of macular dystrophy) would be useful to further delineate these disorders.

Original languageEnglish (US)
Pages (from-to)26-30
Number of pages5
JournalClinical Genetics
Volume34
Issue number1
DOIs
StatePublished - Jul 1988

Keywords

  • Best's disease
  • electro‐oculogram
  • hereditary retinal dystrophy
  • macular dystrophy
  • vitelliform macular dystrophy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Linkage studies of Best's macular dystrophy'. Together they form a unique fingerprint.

  • Cite this

    Yoder, F. E., Cross, H. E., Chase, G. A., Fine, S. L., Freidhoff, L., Machan, C. H., & Bias, W. B. (1988). Linkage studies of Best's macular dystrophy. Clinical Genetics, 34(1), 26-30. https://doi.org/10.1111/j.1399-0004.1988.tb02611.x