Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1983 Jan;35(1):78-84.

Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus

R E Ferrell, H M Hittner, J H Antoszyk

Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus

R E Ferrell et al. Am J Hum Genet. 1983 Jan.

Abstract

One hundred twenty-eight blood samples were drawn from members of a single family with atypical vitelliform macular dystrophy (VMD-1) characterized by variable expressivity in affected members of at least 5 generations. Because of the late onset of detectable retinal lesions in most family members, phenotype data from only 93 individuals who were at least 14 years of age were analyzed for linkage. Phenotype data from the remaining 35 members of the family who were under age 14 were excluded from the analysis. Maximum-likelihood analysis for linkage between VMD-1 and 13 biochemical and serological markers in the family demonstrated linkage between VMD-1 and the soluble glutamate pyruvate transaminase (GPT1) locus, which has been tentatively assigned to the short arm of chromosome 16. A maximum lod score of Z = 4.34 (odds favoring linkage of approximately 22,000 to 1) was obtained at a recombination fraction of theta = .05.

PubMed Disclaimer

References

    1. Cytogenet Cell Genet. 1978;22(1-6):15-36 - PubMed
    1. Ann Hum Genet. 1978 Oct;42(2):255-7 - PubMed
    1. Am J Hum Genet. 1976 Sep;28(5):528-9 - PubMed
    1. Am J Hum Genet. 1955 Sep;7(3):277-318 - PubMed
    1. J Pediatr Ophthalmol Strabismus. 1982 Jan-Feb;19(1):40-7 - PubMed

Publication types

Substances