REFINED LOCALIZATION OF TSC1 BY COMBINED ANALYSIS OF 9Q34 AND 16P13 DATA IN 14 TUBEROUS SCLEROSIS FAMILIES

被引：36

作者：

JANSSEN, B

SAMPSON, J

VANDEREST, M

DEELEN, W

VERHOEF, S

DANIELS, I

HESSELING, A

BROOKCARTER, P

NELLIST, M

LINDHOUT, D

SANDKUIJL, L

HALLEY, D

机构：

[1] DEPT CLIN GENET, 3015 GE ROTTERDAM, NETHERLANDS

[2] UNIV WALES COLL MED, INST MED GENET, CARDIFF, S GLAM, WALES

[3] ACAD HOSP ROTTERDAM, ROTTERDAM, NETHERLANDS

[4] ERASMUS UNIV ROTTERDAM, MGC DEPT CLIN GENET, ROTTERDAM, NETHERLANDS

来源：

HUMAN GENETICS | 1994年 / 94卷 / 04期

关键词：

D O I：

10.1007/BF00201608

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：437 / 440

页数：4

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