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Molecular epidemiology of β-thalassemia in Pakistan: far reaching implications

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. To achieve this objecti... Full description

Journal Title: Indian Journal of Human Genetics 2012, Vol.18 (2), p.193-197
Main Author: Ansari, Saqib H
Other Authors: Shamsi, Tahir S , Ashraf, Mushtaq , Farzana, Tasneem , Bohray, Muneera , Perveen, Kousar , Erum, Sajida , Ansari, Iqra , Ahmed, Muhammad Nadeem , Ahmed, Masood , Raza, Faizan
Format: Electronic Article Electronic Article
Language: English
Subjects:
DNA
Quelle: Alma/SFX Local Collection
Publisher: India: Medknow Publications & Media Pvt Ltd
ID: ISSN: 0971-6866
Link: https://www.ncbi.nlm.nih.gov/pubmed/23162295
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3491293
title: Molecular epidemiology of β-thalassemia in Pakistan: far reaching implications
format: Article
creator:
  • Ansari, Saqib H
  • Shamsi, Tahir S
  • Ashraf, Mushtaq
  • Farzana, Tasneem
  • Bohray, Muneera
  • Perveen, Kousar
  • Erum, Sajida
  • Ansari, Iqra
  • Ahmed, Muhammad Nadeem
  • Ahmed, Masood
  • Raza, Faizan
subjects:
  • DNA
  • Epidemiology
  • Ethnic groups
  • Gene frequency
  • genetic epidemiology
  • Hemoglobinopathy
  • Original
  • Original Article
  • Point mutation
  • Prenatal diagnosis
  • Sampling
  • thalassaemia prevention
  • Villus
ispartof: Indian Journal of Human Genetics, 2012, Vol.18 (2), p.193-197
description: 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. 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. 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. 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. Based on the outcome of this study a cost effective proposal is formulated for detection of β-thalassemia mutations.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0971-6866
fulltext: fulltext
issn:
  • 0971-6866
  • 1998-362X
url: Link


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descriptionβ -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. 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. 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. 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. Based on the outcome of this study a cost effective proposal is formulated for detection of β-thalassemia mutations.
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subjectDNA ; Epidemiology ; Ethnic groups ; Gene frequency ; genetic epidemiology ; Hemoglobinopathy ; Original ; Original Article ; Point mutation ; Prenatal diagnosis ; Sampling ; thalassaemia prevention ; Villus
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abstractβ -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. 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. 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. 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. Based on the outcome of this study a cost effective proposal is formulated for detection of β-thalassemia mutations.
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