| Screening of intron 1 inversion and three intragenic factor VIII gene polymorphisms in Pakistani hemophilia A families. | |
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MedLine Citation:
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PMID: 22270795 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Indirect linkage analysis using highly informative polymorphic markers is the method of choice for carrier detection of hemophilia A in developing countries because direct DNA or mRNA sequence analysis is manifold costly and difficult than indirect gene tracking. Worldwide populations have revealed marked variation in the informativeness of polymorphic markers because of which each country has to select its own panel of markers for linkage analysis in hemophilia A families. The present study aimed at determining the informativeness of three factor VIII gene polymorphisms [intron 13(CA)n repeats, HindIII and AlwNI] in the Pakistani population. One hundred and forty-three individuals from 32 hemophilia A families and 68 unrelated anonymous females from the general population were screened for these polymorphisms using PCR and RFLP techniques. An inversion in intron 1 of the factor VIII gene causing 2-5% of severe hemophilia A cases was also screened in 128 Pakistani hemophilia A patients. None of the affected individuals carried the intron 1 inversion at least in peripheral blood leucocytes. The informativeness of intron 13 repeats, HindIII and AlwNI was 59.1% (13/22 hemophilia A families revealing five different alleles), 40.6% (13/32 hemophilia A families) and 6.25% (2/32 hemophilia A families), respectively. The cumulative informativeness of intron 13 repeats and HindIII was 63.6% (14/22 hemophilia A families), revealing strong linkage disequilibrium between these two polymorphic markers. These results suggest that there is a need to determine the informativeness of other polymorphic markers of the factor VIII gene to achieve 100% success rate for carrier detection of hemophilia A in Pakistan. |
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Authors:
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Saima M Bugvi; Muhammad Imran; Saqib Mahmood; Rubina Hafeez; Warda Fatima; Shahla Sohail |
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Publication Detail:
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Type: JOURNAL ARTICLE |
Journal Detail:
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Title: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Volume: 23 ISSN: 1473-5733 ISO Abbreviation: - Publication Date: 2012 Mar |
Date Detail:
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Created Date: 2012-1-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9102551 Medline TA: Blood Coagul Fibrinolysis Country: - |
Other Details:
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Languages: ENG Pagination: 132-137 Citation Subset: - |
Affiliation:
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aDepartment of Genetics, The Children's Hospital & The Institute for Child Health bCentre for Research in Endocrinology and Reproductive Sciences (CRERS), Department of Physiology and Cell Biology, University of Health Sciences (UHS), Khayaban-e-Jamia Punjab, Lahore cDepartment of Human Genetics and Molecular Biology, UHS dDepartment of Microbiology and Molecular Genetics, University of the Punjab eDepartment of Pathology, Post Graduate Medical Institute (PGMI) fPakistan Haemophilia Welfare Association, Lahore, Pakistan *Saima M. Bugvi, Muhammad Imran and Saqib Mahmood contributed equally to the writing of this article. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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