1型常染色体显性遗传性多囊肾病（ADPKD1）的遗传学和临床研究
Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1).
作者信息
Coto E, Aguado S, Alvarez J, Menéndez Díaz M J, López-Larrea C
机构信息
Servicio de Immunología, Hospital Covadonga, Oviedo, Spain.
出版信息
J Med Genet. 1992 Apr;29(4):243-6. doi: 10.1136/jmg.29.4.243.
Abstract
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.
摘要
对13个患有常染色体显性遗传性多囊肾病的西班牙家庭进行了研究。在一个家庭中，该疾病与PKD1基因座周围的多态性标记不连锁。所有30岁以上携带PKD1基因座突变的受试者均表现出肾脏超声检查可见囊肿，但40%年龄小于30岁的PKD1突变携带者没有肾囊肿。发现肾囊肿患者中高血压更为常见。本文描述了16号染色体多态性基因座与PKD1基因座之间的重组体。
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本文引用的文献
1
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Am J Med Genet. 1984 May;18(1):45-53. doi: 10.1002/ajmg.1320180108.
2
Prognosis of adult onset polycystic kidney disease re-evaluated.
Kidney Int. 1984 Aug;26(2):190-3. doi: 10.1038/ki.1984.154.
3
A study of genetic linkage heterogeneity in adult polycystic kidney disease.成人多囊肾病的遗传连锁异质性研究。
Hum Genet. 1987 Aug;76(4):348-51. doi: 10.1007/BF00272443.
4
Echocardiographic findings in autosomal dominant polycystic kidney disease.常染色体显性遗传性多囊肾病的超声心动图表现
N Engl J Med. 1988 Oct 6;319(14):907-12. doi: 10.1056/NEJM198810063191404.
5
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.两个与16号染色体上成人多囊肾病紧密连锁的遗传标记。
Br Med J (Clin Res Ed). 1986 Mar 29;292(6524):851-3. doi: 10.1136/bmj.292.6524.851.
6
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.一个与16号染色体上成人多囊肾病相关的高度多态性DNA标记。
Nature. 1985;317(6037):542-4. doi: 10.1038/317542a0.
7
Hypertension in autosomal dominant polycystic kidney disease.常染色体显性多囊肾病中的高血压
Kidney Int. 1988 Nov;34(5):683-90. doi: 10.1038/ki.1988.233.
8
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