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.
| Original language | English |
|---|---|
| Pages (from-to) | 559-561 |
| Number of pages | 3 |
| Journal | Journal of Medical Genetics |
| Volume | 33 |
| Issue number | 7 |
| State | Published - Jul 25 1996 |
| Externally published | Yes |
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Keywords
- Chromosome 9q
- Polymorphism
- TSC1
- Tuberous sclerosis complex (TSC)
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Report of a critical recombination further narrowing the TSC1 region. / Au, Kit Sing; Murrell, Jill; Buckler, Alan; Blanton, Susan H; Northrup, Hope.
In: Journal of Medical Genetics, Vol. 33, No. 7, 25.07.1996, p. 559-561.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Report of a critical recombination further narrowing the TSC1 region
AU - Au, Kit Sing
AU - Murrell, Jill
AU - Buckler, Alan
AU - Blanton, Susan H
AU - Northrup, Hope
PY - 1996/7/25
Y1 - 1996/7/25
N2 - 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.
AB - 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.
KW - Chromosome 9q
KW - Polymorphism
KW - TSC1
KW - Tuberous sclerosis complex (TSC)
UR - http://www.scopus.com/inward/record.url?scp=0030055508&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030055508&partnerID=8YFLogxK
M3 - Article
C2 - 8818940
AN - SCOPUS:0030055508
VL - 33
SP - 559
EP - 561
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 7
ER -