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Patching together the genetics of Gorlin syndrome
S J Bale1, R T Falk, G R Rogers
1Genetic Studies Section/LSB/National Institute of Arthritis & Musculoskeletal & Skin Diseases, Bethesda, MD, USA.
Journal of Cutaneous Medicine and Surgery
|July 24, 1998
Summary
Gorlin syndrome, a cancer susceptibility disorder, is linked to the patched gene on chromosome 9. Loss-of-heterozygosity studies and the two-hit model helped elucidate its genetic basis and potential genotype-phenotype correlations.
Area of Science:
- Genetics
- Oncology
- Dermatology
Background:
- Gorlin syndrome is an autosomal dominant disorder.
- Characterized by developmental defects and cancer susceptibility, particularly basal cell carcinomas.
- Recent advances have elucidated the genetic underpinnings of this condition.
Purpose of the Study:
- Review previous studies on Gorlin syndrome genetics.
- Discuss Knudson's two-hit model in the context of Gorlin syndrome.
- Present new data on genotype-phenotype correlations.
Main Methods:
- Loss of heterozygosity (LOH) analysis of tumors and normal tissue.
- Linkage analysis in family studies.
- Review of patched gene involvement in Gorlin syndrome.
Main Results:
- LOH studies and family studies identified a region on chromosome 9 involved in Gorlin syndrome.
- The patched gene was identified as a key factor in the syndrome.
- New data on genotype-phenotype correlations were presented.
Conclusions:
- The two-hit model and LOH studies were instrumental in understanding Gorlin syndrome genetics.
- Mutations in the patched gene may correlate with clinical presentation in affected families.