North Carolina macular dystrophy is assigned to chromosome 6

Kent W. Small, James L. Weber, Allen Roses, Felicia Lennon, Jeffery M Vance, Margaret A Pericak-Vance

Research output: Contribution to journalArticle

85 Citations (Scopus)

Abstract

North Carolina macular dystrophy (NCMD) is an autosomal dominant macular dystrophy causing impaired central vision at an early age, is completely penetrant, and is present in a single large family. With the development of the hypervariable microsatellite (CA repeats) markers in the human genome, it was possible to relatively rapidly screen most of the genome for linkage to the NCMD gene. After utilizing 124 genetic markers, which excluded over 95% of the human genome, three Marshfield microsatellites located at 6q13-q21 were linked to the NCMD locus. Marshfield marker (MFD) 131 gave a lod score of Z(θ̂) = 4.36 at θ = 0.137; MFD 171 gave a Z(θ̂) = 8.42 at θ = 0.004; and MFD 97 gave a Z(θ̂) = 13.10 at θ = 0.017. Other retinal diseases have been reported on 6q stressing the importance of this region and possibly suggesting that these diseases may be allelic or located in part of a large macular gene family. Locating and characterizing the NCMD gene may be an important step in understanding this group of maculopathies as well as age-related macular degeneration (AMD), a common cause of blindness in the elderly.

Original languageEnglish
Pages (from-to)681-685
Number of pages5
JournalGenomics
Volume13
Issue number3
DOIs
StatePublished - Jan 1 1992
Externally publishedYes

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Chromosomes, Human, Pair 6
Macular Degeneration
Human Genome
Microsatellite Repeats
Genes
Lod Score
Retinal Diseases
Blindness
Genetic Markers
Genome
Macular dystrophy, retinal, 1, North Carolina type

ASJC Scopus subject areas

  • Genetics

Cite this

North Carolina macular dystrophy is assigned to chromosome 6. / Small, Kent W.; Weber, James L.; Roses, Allen; Lennon, Felicia; Vance, Jeffery M; Pericak-Vance, Margaret A.

In: Genomics, Vol. 13, No. 3, 01.01.1992, p. 681-685.

Research output: Contribution to journalArticle

Small, Kent W. ; Weber, James L. ; Roses, Allen ; Lennon, Felicia ; Vance, Jeffery M ; Pericak-Vance, Margaret A. / North Carolina macular dystrophy is assigned to chromosome 6. In: Genomics. 1992 ; Vol. 13, No. 3. pp. 681-685.
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