CHROMOSOME 4 LOCALIZATION OF A 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

被引：242
作者：
PETERS, DJM
SPRUIT, L
SARIS, JJ
RAVINE, D
SANDKUIJL, LA
FOSSDAL, R
BOERSMA, J
VANEIJK, R
NORBY, S
CONSTANTINOUDELTAS, CD
PIERIDES, A
BRISSENDEN, JE
FRANTS, RR
VANOMMEN, GJB
BREUNING, MH
机构：
[1] MURDOCH INST, MELBOURNE, VIC 3052, AUSTRALIA
[2] ROYAL MELBOURNE HOSP, MELBOURNE, VIC 3052, AUSTRALIA
[3] NATL UNIV HOSP REYKJAVIK, DEPT MED GENET, BLOODBANK, IS-101 REYKJAVIK, ICELAND
[4] UNIV COPENHAGEN, INST FORENS GENET, DK-2100 COPENHAGEN, DENMARK
[5] CYPRUS INST NEUROL & GENET, NICOSIA, CYPRUS
[6] WELLESLY HOSP, TORONTO L4B 3B6, ON, CANADA
来源：
NATURE GENETICS | 1993年 / 5卷 / 04期
关键词：
D O I：
10.1038/ng1293-359
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European families. Using highly polymorphic microsatellite DNA markers, we have assigned a second gene for ADPKD to chromosome 4. In eight families with clear evidence against linkage to chromosome 16 markers, linkage analysis with the markers D4S231 and D4S423, demonstrated a multipoint rod score of 22.42.
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页码：359 / 362
页数：4
相关论文
共 32 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]   AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE - NEW INFORMATION FOR GENETIC-COUNSELING [J].
BEAR, JC ;
PARFREY, PS ;
MORGAN, JM ;
MARTIN, CJ ;
CRAMER, BC .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (03) :548-553
[3]  
BRISSENDEN JE, 1991, J AM SOC NEPHROL, V2, P913
[4]   INTRACRANIAL ANEURYSMS IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE [J].
CHAPMAN, AB ;
RUBINSTEIN, D ;
HUGHES, R ;
STEARS, JC ;
EARNEST, MP ;
JOHNSON, AM ;
GABOW, PA ;
KAEHNY, WD .
NEW ENGLAND JOURNAL OF MEDICINE, 1992, 327 (13) :916-920
[5]  
DALGAARD O Z, 1957, Acta Med Scand Suppl, V328, P1
[6]   SEGREGATION ANALYSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE [J].
DOBIN, A ;
KIMBERLING, WJ ;
PETTINGER, W ;
BAILEYWILSON, JE ;
SHUGART, YY ;
GABOW, P .
GENETIC EPIDEMIOLOGY, 1993, 10 (03) :189-200
[7]  
FENTON I, 1992, CONTRIB NEPHROL, V97, P118
[8]  
FOSSDAL R, 1993, HUM GENET, V91, P609
[9]   FACTORS AFFECTING THE PROGRESSION OF RENAL-DISEASE IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE [J].
GABOW, PA ;
JOHNSON, AM ;
KAEHNY, WD ;
KIMBERLING, WJ ;
LEZOTTE, DC ;
DULEY, IT ;
JONES, RH .
KIDNEY INTERNATIONAL, 1992, 41 (05) :1311-1319
[10]   THE GENE FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY-DISEASE LIES IN A 750-KB CPG-RICH REGION [J].
GERMINO, GG ;
WEINSTATSASLOW, D ;
HIMMELBAUER, H ;
GILLESPIE, GAJ ;
SOMLO, S ;
WIRTH, B ;
BARTON, N ;
HARRIS, KL ;
FRISCHAUF, AM ;
REEDERS, ST .
GENOMICS, 1992, 13 (01) :144-151
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