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Please use this identifier to cite or link to this item: http://hdl.handle.net/1807/5939

Title: Molecular characterization of mutations causing β-thalassemia in Faisalabad Pakistan using the amplification refractory mutation system (ARMS-PCR)
Authors: Baig, S. M.
Rabbi, F.
Hameed, U.
Qureshi, J. A.
Mahmood, Z.
Bokhari, S. H.
Kiani, A.
Hassan, H.
Baig, J. M.
Azhar, A.
Zaman, T.
Keywords: ARMS-PCR; β -thalassemia; mutations detection; Faisalabad; mutations; Pakistan.
Issue Date: 31-Dec-2005
Publisher: Medknow Publications on behalf of Indian Society of Human Genetics
Citation: Indian Journal of Human Genetics (ISSN: 0971-6866) Vol 11 Num 2
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 AND METHODS: 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.
URI: http://hdl.handle.net/1807/5939
Other Identifiers: http://www.bioline.org.br/abstract?id=hg05018
Rights: Copyright 2005 Indian Journal of Human Genetics.
Appears in Collections:Bioline International Legacy Collection

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