常染色体显性遗传性髓质囊性肾病中进一步基因异质性的证据。

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.

作者信息

Kroiss S, Huck K, Berthold S, Rüschendorf F, Scolari F, Caridi G, Ghiggeri G M, Hildebrandt F, Fuchshuber A

机构信息

University Children's Hospital, Freiburg, Max-Delbrück-Centre for Molecular Medicine, Berlin, Germany.

出版信息

Nephrol Dial Transplant. 2000 Jun;15(6):818-21. doi: 10.1093/ndt/15.6.818.

DOI:10.1093/ndt/15.6.818

PMID:10831633

Abstract

BACKGROUND

Autosomal dominant medullary cystic kidney disease is a genetically heterogeneous nephropathy with clinical and morphological features similar to recessively inherited juvenile nephronophthisis. Recently, a second gene locus on chromosome 16p12, MCKD2 has been mapped [1] in addition to the known locus on chromosome 1q21 (MCKD1) [2]. In a previous study we have excluded linkage for three caucasian families to the MCKD1 locus [3].

METHODS

Haplotype analysis was performed on 72 individuals (including 24 affected subjects), using a set of seven microsatellite markers spanning the critical region on chromosome 16p12-p13 of about 10.5 cM.

RESULTS

We report on haplotype analysis of closely linked markers to the MCKD2 locus in the previously studied families and two additional families.

CONCLUSION

In all five families the association of MCKD2 with the disease was excluded by a multipoint LOD score <-2, thus suggesting the involvement of a third MCKD locus.

摘要

背景

常染色体显性遗传性髓质囊性肾病是一种基因异质性肾病，其临床和形态学特征与隐性遗传的青少年肾单位肾痨相似。最近，除了位于1q21染色体上的已知基因座（MCKD1）[2]外，位于16p12染色体上的第二个基因座MCKD2也已被定位[1]。在之前的一项研究中，我们排除了三个白种人家族与MCKD1基因座的连锁关系[3]。