GENETIC AND CLINICAL-STUDIES IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE TYPE-1 (ADPKD1)

被引：12

作者：

COTO, E

AGUADO, S

ALVAREZ, J

DIAZ, MJM

LOPEZLARREA, C

机构：

[1] HOSP COVADONGA,SERV IMMUNOL,E-33006 OVIEDO,SPAIN

[2] HOSP COVADONGA,SERV NEFROL,E-33006 OVIEDO,SPAIN

来源：

JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 04期

关键词：

D O I：

10.1136/jmg.29.4.243

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Thirteen Spanish families with autosomal dominant polycystic kidney disease were studied. In one family the disease did not segregate with polymorphic markers around the PKD1 locus. All subjects over the age of 30 years carrying a mutation at the PKD1 locus showed renal ultrasonographic cysts, but 40% of carriers of the PKD1 mutation younger than 30 years did not have renal cysts. Hypertension was found to be more frequent in those with renal cysts. Recombinants between 16p polymorphic loci and the PKD1 locus are described.

引用

页码：243 / 246

页数：4

共 19 条

[1] AGE AT CLINICAL ONSET AND AT ULTRASONOGRAPHIC DETECTION OF ADULT POLYCYSTIC KIDNEY-DISEASE - DATA FOR GENETIC-COUNSELING [J].

BEAR, JC ;

MCMANAMON, P ;

MORGAN, J ;

PAYNE, RH ;

LEWIS, H ;

GAULT, MH ;

CHURCHILL, DN .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 18 (01) :45-53

[2] HYPERTENSION IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE [J].

BELL, PE ;

HOSSACK, KF ;

GABOW, PA ;

DURR, JA ;

JOHNSON, AM ;

SCHRIER, RW .

KIDNEY INTERNATIONAL, 1988, 34 (05) :683-690

[3] 2 STEP PROCEDURE FOR EARLY DIAGNOSIS OF POLYCYSTIC KIDNEY-DISEASE WITH POLYMORPHIC DNA MARKERS ON BOTH SIDES OF THE GENE [J].

BREUNING, MH ;

SNIJDEWINT, FGM ;

DAUWERSE, JG ;

SARIS, JJ ;

BAKKER, E ;

PEARSON, PL ;

VANOMMEN, GJB .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (10) :614-617

[4]

BREUNING MH, 1987, LANCET, V2, P1359

[5] MAP OF 16 POLYMORPHIC LOCI ON THE SHORT ARM OF CHROMOSOME-16 CLOSE TO THE POLYCYSTIC KIDNEY-DISEASE GENE (PKD1) [J].

BREUNING, MH ;

SNIJDEWINT, FGM ;

BRUNNER, H ;

VERWEST, A ;

IJDO, JW ;

SARIS, JJ ;

DAUWERSE, JG ;

BLONDEN, L ;

KEITH, T ;

CALLEN, DF ;

HYLAND, VJ ;

XIAO, GH ;

SCHERER, G ;

HIGGS, DR ;

HARRIS, P ;

BACHNER, L ;

REEDERS, ST ;

GERMINO, G ;

PEARSON, PL ;

VANOMMEN, GJB .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (10) :603-613

[6] PROGNOSIS OF ADULT ONSET POLYCYSTIC KIDNEY-DISEASE RE-EVALUATED [J].

CHURCHILL, DN ;

BEAR, JC ;

MORGAN, J ;

PAYNE, RH ;

MCMANAMON, PJ ;

GAULT, MH .

KIDNEY INTERNATIONAL, 1984, 26 (02) :190-193

[7]

DALGAARD OZ, 1963, DISEASE KIDNEYS, P1223

[8] ECHOCARDIOGRAPHIC FINDINGS IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE [J].

HOSSACK, KF ;

LEDDY, CL ;

JOHNSON, AM ;

SCHRIER, RW ;

GABOW, PA .

NEW ENGLAND JOURNAL OF MEDICINE, 1988, 319 (14) :907-912

[9] LINKAGE HETEROGENEITY OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE [J].

KIMBERLING, WJ ;

FAIN, PR ;

KENYON, JB ;

GOLDGAR, D ;

SUJANSKY, E ;

GABOW, PA .

NEW ENGLAND JOURNAL OF MEDICINE, 1988, 319 (14) :913-918

[10]

MCKUSICK VA, 1988, MENDELIAN INHERITANC

← 1 2 →