Beta-thalassemia mutations in western India.
Indian J Pediatr
;
2008 Jun; 75(6): 567-70
Article
in English
| IMSEAR
| ID: sea-84050
ABSTRACT
OBJECTIVE:
To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities.METHODS:
The mutation screening was carried out using ARMS-PCR in children with beta thalassemia.RESULTS:
Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G-->C) followed by 619 bp deletions of the total cases coming to Gujarat.CONCLUSION:
Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Prenatal Diagnosis
/
Humans
/
DNA Mutational Analysis
/
Ethnicity
/
Genetic Testing
/
Polymerase Chain Reaction
/
Prevalence
/
Frameshift Mutation
/
Sequence Deletion
/
Point Mutation
Type of study:
Diagnostic study
/
Prevalence study
/
Prognostic study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Pediatr
Year:
2008
Type:
Article
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