Molecular characterization of mutations causing β -thalassemia in Faisalabad Pakistan using the amplification refractory mutation system (ARMS-PCR).
Indian J Hum Genet
;
2005 May; 11(2): 80-83
Artigo
em Inglês
| IMSEAR
| ID: sea-143334
ABSTRACT
BACKGROUND:
Faisalabad is the third biggest city of Pakistan. Majority of the population is Punjabi while other ethnic groups are in minority.AIMS:
The present study was undertaken to find the mutations causing β -thalassemia in Faisalabad Pakistan. MATERIALS ANDMETHODS:
A total of 285 β -globin alleles from 143 unrelated families having at least one transfusion-dependent child were analyzed by using amplification refractory mutation system (ARMS-PCR).RESULTS:
FSC-8/9 (+G) and IVS-I-5 (G ®C) were the most common mutations. The allele frequency for FSC-8/9 (+G) was 38.59% while frequency for IVS-I-5 (G ®C) was 37.89%. The high frequency (76.48%) of IVS-I-5 (G ®C) and FSC-8/9 (+G) on various alleles provides a strong evidence of intermarriages.CONCLUSIONS:
By using ARMS-PCR, the mutations were successfully characterized in 95.79% of subjects, while 4.21% remain to be characterized. This study will facilitate the implementations of genetic counseling and prenatal diagnosis in the population of Faisalabad.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2005
Tipo de documento:
Artigo
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