Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem

1989 ◽  
Vol 9 (11) ◽  
pp. 759-767 ◽  
Author(s):  
G. Novelli ◽  
M. Frontali ◽  
D. Baldini ◽  
C. Bosman ◽  
B. Dallapiccola ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Genetic Heterogeneity ◽  
Dna Markers ◽  
Chromosome 16 ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease

PRENATAL DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE

The Lancet ◽  
1983 ◽  
Vol 322 (8345) ◽  
pp. 337-338 ◽  
Author(s):  
Denise Main ◽  
MichaelT. Mennuti ◽  
David Cornfeld ◽  
Beverly Coleman
Keyword(s):  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease

scholarly journals Cerebral Aneurysms and Polycystic Kidney Disease: A Critical Review

1992 ◽  
Vol 19 (2) ◽  
pp. 222-227 ◽  
Author(s):  
Andres M. Lozano ◽  
Richard Leblanc
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Genetic Defect ◽  
Cerebral Aneurysms ◽  
Cooperative Study ◽  
Chromosome 16 ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease ◽  
Genetically Determined ◽  
Biological Differences

ABSTRACT:The pathogenic basis of the association between adult polycystic kidney disease (APKD) and cerebral aneurysms is unknown. We have compared cerebral aneurysms in 79 patients with APKD gleaned from the literature to the sporadic aneurysm cases reported by the Cooperative Study to determine if there are significant biological differences between these two groups. Sixty-eight patients had a single aneurysm and 11 (14%) had multiple aneurysms. In APKD patients with subarachnoid hemorrhage from a single aneurysm there was a significant over-representation of males (72%, p < 0.01); and the APKD group had more aneurysms of the middle cerebral artery (37%, p < 0.05). The peak decennial incidence and mean age of rupture of APKD-associated aneurysms was younger (mean age 39.7 years, p < 0.01) and over 77% of APKD-associated aneurysms had ruptured by age 50 versus 42% for sporadic aneurysms (p < 0.001). Cerebral aneurysms co-existed with APKD in the absence of hypertension in 25% of 45 cases where the presence or absence of hypertension was recorded. These biological differences and the occurrence of aneurysms in normotensive APKD patients suggests an etiology which may be independent of hypertension and that APKD-associated aneurysms may be genetically determined. It is hypothesized that cases of inherited, familial cerebral aneurysms could be linked to a genetic defect resembling that which occurs on chromosome 16 in APKD.

scholarly journals A TaqI polymorphism identified by 26–6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16

1990 ◽  
Vol 18 (10) ◽  
pp. 3106-3106 ◽  
Author(s):  
M.H. Breuning ◽  
F.G.M. Snijdewint ◽  
J.R. Smits ◽  
J.G. Dauwerse ◽  
J.J. Saris ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Chromosome 16 ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease ◽  
Taqi Polymorphism

Two Genetic Markers Closely Linked to Adult Polycystic Kidney Disease on Chromosome 16

1986 ◽  
Vol 136 (4) ◽  
pp. 987-987
Author(s):  
S.T. Reeders ◽  
M.H. Breuning ◽  
G. Corney ◽  
S.J. Jeremiah ◽  
P.M. Khan ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Genetic Markers ◽  
Chromosome 16 ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease

scholarly journals Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.

1987 ◽  
Vol 24 (8) ◽  
pp. 457-461 ◽  
Author(s):  
M L Watson ◽  
A F Wright ◽  
A M Macnicol ◽  
P L Allan ◽  
J F Clayton ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Genetic Linkage ◽  
Chromosome 16 ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

Nature ◽  
1985 ◽  
Vol 317 (6037) ◽  
pp. 542-544 ◽  
Author(s):  
S. T. Reeders ◽  
M. H. Breuning ◽  
K. E. Davies ◽  
R. D. Nicholls ◽  
A. P. Jarman ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Dna Marker ◽  
Chromosome 16 ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease

Improved Early Diagnosis of Adult Polycystic Kidney Disease With Flanking DNA Markers

1988 ◽  
Vol 139 (6) ◽  
pp. 1382-1382
Author(s):  
M.H. Breuning ◽  
S.T. Reeders ◽  
H. Brunner ◽  
J.W. Ijdo ◽  
J.J. Saris ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Early Diagnosis ◽  
Polycystic Kidney Disease ◽  
Dna Markers ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease
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