Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications.
Indian J Hum Genet
;
2012 May; 18(2): 193-197
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Paquistão
/
Diagnóstico Pré-Natal
/
Humanos
/
Etnicidade
/
Talassemia beta
/
Frequência do Gene
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
/
Estudo prognóstico
/
Estudo de rastreamento
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2012
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS