Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications.
Indian J Hum Genet
;
2012 May; 18(2): 193-197
Article
in English
| IMSEAR
| ID: sea-143270
ABSTRACT
Background:
β -Thalassaemia, an autosomal recessive hemoglobinopathy, is one of the commonest genetically transmitted disorders throughout the world. Collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing β-thalassemia.Aim:
To achieve this objective, Identification of the spectrum of genetic mutations, especially for various ethnic backgrounds in Pakistan. Therefore, we designed a cross sectional prospective study to identify the frequency of various gene mutations in different ethnic groups of Pakistan. Materials andMethods:
Over a 5-year period, DNA from 648 blood samples {including specimens of chorionic villus sampling (CVS)} were analyzed for the twelve most common β-thalassemia mutations found in the Pakistani population by a Multiplex amplification refractory mutation system (ARMS). Each sample was analyzed for the mutation as well as the normal gene, appropriate with negative and positive controls, and reagent blanks.Results:
Out of 648 samples mutations were identified in 640 (98.75%) samples by multiplex ARMS. 8 common β-thalassemia mutations were identified in 8 different ethnic groups accounting for 93.9% of the β-thalasemia alleles.Conclusions:
Based on the outcome of this study a cost effective proposal is formulated for detection of β-thalassemia mutations.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pakistan
/
Prenatal Diagnosis
/
Humans
/
Ethnicity
/
Beta-Thalassemia
/
Gene Frequency
/
Mutation
Type of study:
Diagnostic study
/
Observational study
/
Prognostic study
/
Screening study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Hum Genet
Year:
2012
Type:
Article
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