Report of a critical recombination further narrowing the TSC1 region

被引：8

作者：

Au, KS

Murrell, J

Buckler, A

Blanton, SH

Northrup, H

机构：

[1] UNIV TEXAS, SCH MED, DEPT PEDIAT, DIV MED GENET, HOUSTON, TX 77030 USA

[2] MASSACHUSETTS GEN HOSP, MOLEC NEUROGENET LAB, BOSTON, MA USA

[3] HARVARD UNIV, SCH MED, DEPT GENET, BOSTON, MA USA

[4] UNIV VIRGINIA, DEPT PEDIAT, CHARLOTTESVILLE, VA USA

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 07期

关键词：

tuberous sclerosis complex (TSC); TSC1; chromosome; 99; polymorphism;

D O I：

10.1136/jmg.33.7.559

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeric end of the critical region, which contains three genes and three to four additional exons for which the associated genes have not been delineated. This information serves to further the search for the TSC1 gene.

引用

页码：559 / 561

页数：3

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