Report of a critical recombination further narrowing the TSC1 region

Kit Sing Au; Jill Murrell; Alan Buckler; Susan H. Blanton; Hope Northrup

doi:10.1136/jmg.33.7.559

Report of a critical recombination further narrowing the TSC1 region

Kit Sing Au, Jill Murrell, Alan Buckler, Susan H. Blanton, Hope Northrup

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

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 (US)
Pages (from-to)	559-561
Number of pages	3
Journal	Journal of medical genetics
Volume	33
Issue number	7
DOIs	https://doi.org/10.1136/jmg.33.7.559
State	Published - 1996
Externally published	Yes

Keywords

Chromosome 9q
Polymorphism
TSC1
Tuberous sclerosis complex (TSC)

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1136/jmg.33.7.559

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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 = "Chromosome 9q, Polymorphism, TSC1, Tuberous sclerosis complex (TSC)",

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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

Y1 - 1996

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)

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JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 7

ER -

Report of a critical recombination further narrowing the TSC1 region

Abstract

Keywords

ASJC Scopus subject areas

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