Fine mapping of the nail-patella syndrome locus at 9q34

Iain McIntosh; Mark V. Clough; Alejandro A. Schäffer; Erik G. Puffenberger; V. Kim Horton; Kathryn Peters; Margaret H. Abbott; Carmen M. Roig; Steven Cutone; Laurie Ozelius; David J. Kwiatkowski; Reed E. Pyeritz; Laura J. Brown; Richard M. Pauli; Mary Kay McCormick; Clair A. Francomano

Fine mapping of the nail-patella syndrome locus at 9q34

Iain McIntosh
, Mark V. Clough
, Alejandro A. Schäffer
, Erik G. Puffenberger
, V. Kim Horton
, Kathryn Peters
, Margaret H. Abbott
, Carmen M. Roig
, Steven Cutone
, Laurie Ozelius
, David J. Kwiatkowski
, Reed E. Pyeritz
, Laura J. Brown
, Richard M. Pauli
, Mary Kay McCormick
, Clair A. Francomano

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

Abstract

Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy. Previous studies have demonstrated linkage of the nail-patella locus to the ABO and adenylate kinase loci on human chromosome 9q34. As a first step toward isolating the NPS gene, we present linkage analysis with 13 polymorphic markers in five families with a total of 69 affected persons. Two-point linkage analysis with the program MLINK showed tight linkage of NPS and the anonymous markers D9S112 (LOD = 27.0; θ = .00) and D9S315 (LOD = 22.0; θ = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1).

Original language	English (US)
Pages (from-to)	133-142
Number of pages	10
Journal	American journal of human genetics
Volume	60
Issue number	1
State	Published - Jan 1997
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

@article{d9f8aadf47a4489f9c2b9d5e97cc51c7,

title = "Fine mapping of the nail-patella syndrome locus at 9q34",

abstract = "Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy. Previous studies have demonstrated linkage of the nail-patella locus to the ABO and adenylate kinase loci on human chromosome 9q34. As a first step toward isolating the NPS gene, we present linkage analysis with 13 polymorphic markers in five families with a total of 69 affected persons. Two-point linkage analysis with the program MLINK showed tight linkage of NPS and the anonymous markers D9S112 (LOD = 27.0; θ = .00) and D9S315 (LOD = 22.0; θ = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1).",

author = "Iain McIntosh and Clough, \{Mark V.\} and Sch{\"a}ffer, \{Alejandro A.\} and Puffenberger, \{Erik G.\} and Horton, \{V. Kim\} and Kathryn Peters and Abbott, \{Margaret H.\} and Roig, \{Carmen M.\} and Steven Cutone and Laurie Ozelius and Kwiatkowski, \{David J.\} and Pyeritz, \{Reed E.\} and Brown, \{Laura J.\} and Pauli, \{Richard M.\} and McCormick, \{Mary Kay\} and Francomano, \{Clair A.\}",

year = "1997",

month = jan,

language = "English (US)",

volume = "60",

pages = "133--142",

journal = "American journal of human genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "1",

}

TY - JOUR

T1 - Fine mapping of the nail-patella syndrome locus at 9q34

AU - McIntosh, Iain

AU - Clough, Mark V.

AU - Schäffer, Alejandro A.

AU - Puffenberger, Erik G.

AU - Horton, V. Kim

AU - Peters, Kathryn

AU - Abbott, Margaret H.

AU - Roig, Carmen M.

AU - Cutone, Steven

AU - Ozelius, Laurie

AU - Kwiatkowski, David J.

AU - Pyeritz, Reed E.

AU - Brown, Laura J.

AU - Pauli, Richard M.

AU - McCormick, Mary Kay

AU - Francomano, Clair A.

PY - 1997/1

Y1 - 1997/1

N2 - Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy. Previous studies have demonstrated linkage of the nail-patella locus to the ABO and adenylate kinase loci on human chromosome 9q34. As a first step toward isolating the NPS gene, we present linkage analysis with 13 polymorphic markers in five families with a total of 69 affected persons. Two-point linkage analysis with the program MLINK showed tight linkage of NPS and the anonymous markers D9S112 (LOD = 27.0; θ = .00) and D9S315 (LOD = 22.0; θ = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1).

AB - Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy. Previous studies have demonstrated linkage of the nail-patella locus to the ABO and adenylate kinase loci on human chromosome 9q34. As a first step toward isolating the NPS gene, we present linkage analysis with 13 polymorphic markers in five families with a total of 69 affected persons. Two-point linkage analysis with the program MLINK showed tight linkage of NPS and the anonymous markers D9S112 (LOD = 27.0; θ = .00) and D9S315 (LOD = 22.0; θ = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1).

UR - https://www.scopus.com/pages/publications/16944365531

UR - https://www.scopus.com/pages/publications/16944365531#tab=citedBy

M3 - Article

C2 - 8981956

AN - SCOPUS:16944365531

SN - 0002-9297

VL - 60

SP - 133

EP - 142

JO - American journal of human genetics

JF - American journal of human genetics

IS - 1

ER -

Fine mapping of the nail-patella syndrome locus at 9q34

Abstract

ASJC Scopus subject areas

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