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Literature DB >> 8818940

Report of a critical recombination further narrowing the TSC1 region.

K S Au¹, J Murrell, A Buckler, S H Blanton, H Northrup.

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.

Entities: Disease Gene Species

Mesh：

Substances：
Genetic Markers

Year: 1996 PMID： 8818940 PMCID： PMC1050662 DOI： 10.1136/jmg.33.7.559

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

19 in total

1. Construction of a GT polymorphism map of human 9q.

Authors: D J Kwiatkowski; E P Henske; K Weimer; L Ozelius; J F Gusella; J Haines
Journal: Genomics Date: 1992-02 Impact factor: 5.736

2. Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Authors: H Northrup; D J Kwiatkowski; E S Roach; W B Dobyns; R A Lewis; G E Herman; E Rodriguez; S P Daiger; S H Blanton
Journal: Am J Hum Genet Date: 1992-10 Impact factor: 11.025

3. Molecular genetic basis of the histo-blood group ABO system.

Authors: F Yamamoto; H Clausen; T White; J Marken; S Hakomori
Journal: Nature Date: 1990-05-17 Impact factor: 49.962

4. Genetic aspects of tuberous sclerosis in the west of Scotland.

Authors: J R Sampson; S J Scahill; J B Stephenson; L Mann; J M Connor
Journal: J Med Genet Date: 1989-01 Impact factor: 6.318

5. 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 analysis.

Authors: A O Martin; H Northrup; D H Ledbetter; B Trask; G van den Engh; M M Le Beau; A L Beaudet; J W Gray; G Sekhon; N Krassikoff
Journal: Am J Med Genet Date: 1988-11

1. Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC).

Authors: J A Rodriguez; R L Evans; S P Daiger; H Northrup
Journal: J Med Genet Date: 1997-06 Impact factor: 6.318

1 in total

Report of a critical recombination further narrowing the TSC1 region.

1. Construction of a GT polymorphism map of human 9q.

2. Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

3. Molecular genetic basis of the histo-blood group ABO system.

4. Genetic aspects of tuberous sclerosis in the west of Scotland.

5. 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 analysis.

6. A de novo frame-shift mutation in the tuberin gene.

7. Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

8. Dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase (DBH) locus.

9. Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset.

10. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982.

1. Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC).