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
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
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