Report of a critical recombination further narrowing the TSC1 region.
Open Access
- 1 July 1996
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 33 (7) , 559-561
- https://doi.org/10.1136/jmg.33.7.559
Abstract
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.Keywords
This publication has 21 references indexed in Scilit:
- A de novo frame-shift mutation in the tuberin geneHuman Molecular Genetics, 1995
- A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contigGenomics, 1995
- The CEPH consortium linkage map of human chromosome 16Genomics, 1995
- A PCR-Based Genetic Linkage Map of Human Chromosome 16Genomics, 1994
- REPORT on the Third International Workshop on Chromosome 9Annals of Human Genetics, 1994
- BstUI and Dpnll RFLPs at the COL5A1 geneHuman Molecular Genetics, 1994
- Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney diseaseNature Genetics, 1992
- Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative DatasetaAnnals of the New York Academy of Sciences, 1991
- Genetic aspects of tuberous sclerosis in the west of Scotland.Journal of Medical Genetics, 1989
- Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysisAmerican Journal of Medical Genetics, 1988