Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3

P McWilliam; G J Farrar; P Kenna; D G Bradley; M M Humphries; E M Sharp; D J McConnell; M Lawler; D Sheils; C Ryan; Mark Lawler

Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3

P McWilliam, G J Farrar, P Kenna, D G Bradley, M M Humphries, E M Sharp, D J McConnell, M Lawler, D Sheils, C Ryan, Mark Lawler

Research output: Contribution to journal › Article › peer-review

151 Citations (Scopus)

Abstract

Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3. Significant, tight linkage of ADRP to D3S47, with a lod score of 14.7 maximizing at 0.00 recombination, has been obtained, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.

Original language	English
Pages (from-to)	619-22
Number of pages	4
Journal	Genomics
Volume	5
Issue number	3
Publication status	Published - Oct 1989

Keywords

Chromosome Mapping
Chromosomes, Human, Pair 3
Female
Genes, Dominant
Genetic Linkage
Genetic Markers
Humans
Lod Score
Male
Pedigree
Polymorphism, Genetic
Recombination, Genetic
Retinitis Pigmentosa

Cite this

@article{0770e2735cda44609fb7e0946ae686c1,

title = "Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3",

abstract = "Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3. Significant, tight linkage of ADRP to D3S47, with a lod score of 14.7 maximizing at 0.00 recombination, has been obtained, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.",

keywords = "Chromosome Mapping, Chromosomes, Human, Pair 3, Female, Genes, Dominant, Genetic Linkage, Genetic Markers, Humans, Lod Score, Male, Pedigree, Polymorphism, Genetic, Recombination, Genetic, Retinitis Pigmentosa",

author = "P McWilliam and Farrar, {G J} and P Kenna and Bradley, {D G} and Humphries, {M M} and Sharp, {E M} and McConnell, {D J} and M Lawler and D Sheils and C Ryan and Mark Lawler",

year = "1989",

month = oct,

language = "English",

volume = "5",

pages = "619--22",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

number = "3",

}

TY - JOUR

T1 - Autosomal dominant retinitis pigmentosa (ADRP)

T2 - localization of an ADRP gene to the long arm of chromosome 3

AU - McWilliam, P

AU - Farrar, G J

AU - Kenna, P

AU - Bradley, D G

AU - Humphries, M M

AU - Sharp, E M

AU - McConnell, D J

AU - Lawler, M

AU - Sheils, D

AU - Ryan, C

AU - Lawler, Mark

PY - 1989/10

Y1 - 1989/10

N2 - Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3. Significant, tight linkage of ADRP to D3S47, with a lod score of 14.7 maximizing at 0.00 recombination, has been obtained, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.

AB - Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3. Significant, tight linkage of ADRP to D3S47, with a lod score of 14.7 maximizing at 0.00 recombination, has been obtained, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 3

KW - Female

KW - Genes, Dominant

KW - Genetic Linkage

KW - Genetic Markers

KW - Humans

KW - Lod Score

KW - Male

KW - Pedigree

KW - Polymorphism, Genetic

KW - Recombination, Genetic

KW - Retinitis Pigmentosa

M3 - Article

C2 - 2613244

VL - 5

SP - 619

EP - 622

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 3

ER -

Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3

Abstract

Keywords

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