通过对14个结节性硬化症家系中9q34和16p13数据的联合分析对TSC1进行精细定位

Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.

作者信息

Janssen B, Sampson J, van der Est M, Deelen W, Verhoef S, Daniels I, Hesseling A, Brook-Carter P, Nellist M, Lindhout D

机构信息

MGC Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.

出版信息

Hum Genet. 1994 Oct;94(4):437-40. doi: 10.1007/BF00201608.

DOI:10.1007/BF00201608

Abstract

Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 cM between ABL and ABO.

摘要

结节性硬化症（TSC）是一种异质性疾病。自1990年以来，连锁研究已在9号、11号、12号和16号染色体上发现了假定的TSC基因座。我们目前对14个荷兰和英国家庭进行的分析仅揭示了9号染色体长臂34区（TSC1）和16号染色体短臂13区（TSC2）存在基因座的证据。我们没有发现与这两个染色体区域之一连锁或不连锁的第三个TSC基因座的迹象。我们的大多数家庭显示与9号染色体连锁。我们已将TSC1的候选区域缩小到ABL和ABO之间约5厘摩的区域。

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