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Titolo:
FINE MAPPING OF THE NAIL-PATELLA SYNDROME LOCUS AT 9Q34
Autore:
MCINTOSH L; CLOUGH MV; SCHAFFER AA; PUFFENBERGER EG; HORTON VK; PETERS K; ABBOTT MH; ROIG CM; CUTONE S; OZELIUS L; KWIATKOWSKI DJ; PYERITZ RE; BROWN LJ; PAULI RM; MCCORMICK MK; FRANCOMANO CA;
Indirizzi:
JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,600 N WOLFE ST,BLALOCK 1012GBALTIMORE MD 21287 JOHNS HOPKINS UNIV,SCH MED,DEPT MED BALTIMORE MD 21205 NIH,NATL CTR HUMAN GENOME RES,MED GENET BRANCH BETHESDA MD 20892 NIH,NATL CTR HUMAN GENOME RES,LAB GENET DIS RES BETHESDA MD 20892 UNIV WISCONSIN,DEPT PEDIAT MADISON WI 00000 UNIV WISCONSIN,DEPT MED GENET MADISON WI 53706 SO CALIF PERMANENTE MED GRP,DEPT MED GENET SACRAMENTO CA 00000 MASSACHUSETTS GEN HOSP,MOL NEUROGENET UNIT CHARLESTOWN MA 00000 HARVARD UNIV,BRIGHAM & WOMENS HOSP,SCH MED,DIV EXPT MED BOSTON MA 02115
Titolo Testata:
American journal of human genetics
fascicolo: 1, volume: 60, anno: 1997,
pagine: 133 - 142
SICI:
0002-9297(1997)60:1<133:FMOTNS>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
DINUCLEOTIDE REPEAT POLYMORPHISM; LINKAGE ANALYSIS; CHROMOSOME-9; ASSIGNMENT; 9Q31-34; MAP; ACHONDROPLASIA; LOCALIZATION; STRATEGIES; GENES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
42
Recensione:
Indirizzi per estratti:
Citazione:
L. Mcintosh et al., "FINE MAPPING OF THE NAIL-PATELLA SYNDROME LOCUS AT 9Q34", American journal of human genetics, 60(1), 1997, pp. 133-142

Abstract

Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomaldominant, 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 andadenylate 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; theta = .00) and D9S315 (LOD = 22.0; theta = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylatekinase gene (AK1).

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Documento generato il 25/11/20 alle ore 07:24:56