成人多囊肾病的遗传连锁异质性研究。

A study of genetic linkage heterogeneity in adult polycystic kidney disease.

作者信息

Reeders S T, Breuning M H, Ryynanen M A, Wright A F, Davies K E, King A W, Watson M L, Weatherall D J

出版信息

Trans Assoc Am Physicians. 1986;99:154-60.

Abstract

The mutation for APKD has previously been localized to chromosome 16 by the demonstration of genetic linkage with both the alpha-chain of hemoglobin and phosphoglycolate phosphatase. These studies were carried out, however, on a limited number of families, and the possibility remained that mutations at other genetic loci might produce the disease. Such genetic heterogeneity of linkage would invalidate the general use of chromosome 16 markers for the purpose of detection of the disease and complicate the characterization of the APKD mutation at the molecular level. Therefore, further families were studied to resolve this issue. A total of 27 Northern European pedigrees were analyzed, all apparently unrelated and with origins in England, Scotland, Holland, and Eastern Finland. No evidence was found to suggest heterogeneity of genetic linkage between alpha-globin and the disease locus in this population.

摘要

通过证明与血红蛋白α链和磷酸乙醇酸磷酸酶的遗传连锁，先前已将常染色体显性多囊肾病（APKD）的突变定位到16号染色体。然而，这些研究仅在有限数量的家族中进行，其他基因位点发生突变也可能导致该病的可能性依然存在。这种连锁的遗传异质性会使16号染色体标记物在检测该疾病时无法普遍使用，并使APKD突变在分子水平上的特征描述变得复杂。因此，对更多家族进行了研究以解决这一问题。总共分析了27个北欧家系，所有家系显然无亲缘关系，其起源地为英格兰、苏格兰、荷兰和芬兰东部。未发现证据表明该人群中α珠蛋白与疾病位点之间存在遗传连锁异质性。