Genotype-phenotype correlation analysis in retinoblastoma patients from India.
Article
in English
| IMSEAR
| ID: sea-37741
ABSTRACT
BACKGROUND:
Genetic analysis has a beneficial impact on retinoblastoma management enabling definite risk assessment. However, information regarding genotype-phenotype correlation in retinoblastoma is limited.AIM:
To analyze the retinoblastoma susceptibility gene for mutations in retinoblastoma patients and correlate the genotypes the phenotypes.METHODOLOGY:
Eleven retinoblastoma patients, who underwent molecular genetic studies were classified into high, moderate or low disease severity groups based on phenotype.RESULTS:
Seven patients had high disease severity and four moderate disease severity. Eleven truncating mutations were detected; six were in the N-terminus region of the retinoblastoma protein and two in the A/B pocket (p=0.03).CONCLUSIONS:
No significant association between mutation type and disease severity could be established in the present study. However a positive correlation between location of the mutations in certain domains of the retinoblastoma protein and disease severity was observed. To the best of our knowledge this is the first genotype-phenotype correlation study in retinoblastoma patients from India.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Phenotype
/
Retinoblastoma
/
Severity of Illness Index
/
Female
/
Humans
/
Male
/
DNA Mutational Analysis
/
Polymerase Chain Reaction
/
Genetic Predisposition to Disease
/
Genotype
Type of study:
Risk factors
Country/Region as subject:
Asia
Language:
English
Year:
2006
Type:
Article
Similar
MEDLINE
...
LILACS
LIS