结节性硬化症一个重要基因位点与多囊肾病16号染色体标记的连锁关系。

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.

作者信息

Kandt R S, Haines J L, Smith M, Northrup H, Gardner R J, Short M P, Dumars K, Roach E S, Steingold S, Wall S

机构信息

Division of Neurology in Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.

出版信息

Nat Genet. 1992 Sep;2(1):37-41. doi: 10.1038/ng0992-37.

DOI:10.1038/ng0992-37

PMID:1303246

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous body systems including skin, brain and kidneys. Some TSC has been linked to chromosome 9, additional TSC genes on chromosomes 11 and 12 have been proposed, but the majority of TSC families remain unlinked. Using TSC families in which data had excluded linkage to chromosome 9, we failed to detect linkage with loci on chromosomes 11, 12 and others. One marker examined was D16S283, the closest locus on the proximal side of the polycystic kidney disease type 1 (PKD1) gene. Linkage between TSC and D16S283 demonstrated a lod score of 9.50 at theta = 0.02 with one family independently presenting a lod score of 4.44 at theta = 0.05. These data reveal an important TSC locus near the region of PKD1 on chromosome 16p13.

摘要

结节性硬化症（TSC）是一种病因不明的常染色体显性疾病，可累及包括皮肤、脑和肾脏在内的多个身体系统。部分TSC病例与9号染色体有关，有人提出11号和12号染色体上存在其他TSC基因，但大多数TSC家系仍未找到相关联系。我们利用数据已排除与9号染色体连锁关系的TSC家系，未能检测到与11号、12号染色体及其他位点的连锁关系。所检测的一个标记是D16S283，它是1型多囊肾病（PKD1）基因近端最接近的位点。TSC与D16S283之间的连锁关系在θ = 0.02时显示lod值为9.50，有一个家系在θ = 0.05时独立呈现lod值为4.44。这些数据揭示了位于16p13染色体上PKD1区域附近的一个重要TSC位点。