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Titolo:
GENE LINKAGE ANALYSIS AND DNA-BASED DETECTION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A NEWBORN-INFANT - CASE-REPORT
Autore:
TURCO AE; PADOVANI EM; PEISSEL B; CHIAFFONI GP; ROSSETTI S; GAMMARO L; MASCHIO G; PIGNATTI PF;
Indirizzi:
UNIV VERONA,UNIV HOSP POLYCLIN B ROMA,SCH MED,ST GRAZIE 8 I-37134 VERONA ITALY UNIV VERONA,SCH MED,INST GENET I-37100 VERONA ITALY UNIV VERONA,SCH MED,DEPT PEDIAT I-37100 VERONA ITALY UNIV VERONA,SCH MED,DIV MED NEPHROL I-37100 VERONA ITALY
Titolo Testata:
Journal of perinatal medicine
fascicolo: 3, volume: 23, anno: 1995,
pagine: 205 - 212
SICI:
0300-5577(1995)23:3<205:GLAADD>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYMERASE CHAIN-REACTION; PRENATAL-DIAGNOSIS; ONSET; HETEROGENEITY; CHILDREN; CHROMOSOME-16; CHILDHOOD; FAMILIES; MARKERS; LOCUS;
Keywords:
ADPKD; ARPKD; AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE; AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE; DNA POLYMORPHISMS; LINKAGE ANALYSIS; MOLECULAR DIAGNOSIS; PCR; POLYMERASE CHAIN REACTION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
A.E. Turco et al., "GENE LINKAGE ANALYSIS AND DNA-BASED DETECTION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A NEWBORN-INFANT - CASE-REPORT", Journal of perinatal medicine, 23(3), 1995, pp. 205-212

Abstract

Bilateral polycystic kidneys were detected by ultrasound at 23 weeks gestation in a male fetus. Bilateral renal cysts were subsequently also found in the asymptomatic propositus' mother and grandmother, suggesting the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). The renal ultrasonograms showed cortical cysts with normal or decreased-sized kidneys. Renal function was normal. Seven available members of the family were genotyped for flanking DNA markers tightly linked to the PKD1 gene on chromosome 16p, and for a polymorphism close toa second putative disease gene (PKD2) on chromosome 2. The genetic linkage approach allowed us to detect with a high degree of accuracy theADPKD1 at risk chromosome in the three patients, as well as in a 28-year-old unaffected female. This report illustrates the feasibility andthe usefulness of recent molecular genetic strategies for diagnostic purposes in ADPKD, especially when clinical and radiological data are atypical. Furthermore, it also confirms that early or very early onsetforms of the disease are not uncommon, and should be considered in the differential diagnosis of childhood cystic disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 10:24:05