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Updated: Jul 19, 2026
06:52
Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
Retinoblastoma: a diagnostic model for India.
Biju Joseph1, Jagadeesan Madhavan, Gandra Mamatha
1SN ONGC Department of Genetics and Molecular Biology, Medical Research Foundation, Sankara Nethralaya, Chennai - 600 006, India.
Asian Pacific Journal of Cancer Prevention : APJCP
|October 25, 2006
Summary
This study introduces a new diagnostic model for retinoblastoma genetic testing in India. The model streamlines laboratory tests for accurate risk prediction and management of this eye cancer.
Area of Science:
- Ophthalmology
- Genetics
- Oncology
Background:
- Accurate molecular genetic diagnostics are crucial for retinoblastoma risk prediction and management.
- There is a need for a comprehensive diagnostic model for retinoblastoma in Indian tertiary ophthalmic institutions.
- An efficient model can reduce healthcare costs and optimize resource allocation.
Purpose of the Study:
- To develop a comprehensive diagnostic model for retinoblastoma genetic testing in India.
- To establish a standardized laboratory testing flow for retinoblastoma diagnosis.
- To aid in genetic counseling for families affected by retinoblastoma.
Main Methods:
- The proposed model outlines a logical sequence for genetic tests.
- Includes karyotyping, loss of heterozygosity analysis, and molecular deletion analysis.
- Covers linkage analysis, mutation screening (RB1 exons), and promoter region screening.
Main Results:
- The diagnostic model provides a practical workflow for genetic testing.
- It details the sequence of various genetic analyses for retinoblastoma.
- The model facilitates the identification of causative genetic alterations.
Conclusions:
- The model offers a comprehensive methodology for identifying retinoblastoma-causing mutations.
- It is applicable to tertiary hospitals in India and neighboring high-incidence regions.
- The diagnostic approach may be adaptable for other cancers with modifications.
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01:20The Retinoblastoma Gene
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The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...