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International Journal of Molecular Medicine
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Print ISSN: 1107-3756 Online ISSN: 1791-244X
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November 2002 Volume 10 Issue 5

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International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

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Medicine International

An International Open Access Journal Devoted to General Medicine.

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November 2002 Volume 10 Issue 5

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Article

Carrier analysis and prenatal diagnosis of haemophilia A in North India

  • Authors:
    • Gouri Shanker Pandey
    • Shubha R. Phadke
    • Balraj Mittal

  • View Affiliations / Copyright

    Affiliations: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India
  • Pages: 661-664
    |
    Published online on: November 1, 2002
       https://doi.org/10.3892/ijmm.10.5.661
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Abstract

The feasibility of DNA diagnosis for haemophilia A in North India was evaluated using intragenic polymorphic DNA markers in factor VIII gene for linkage analysis as well as direct detection of inversion mutation in intron 22 of the gene. The informativity of RFLP (HindIII, BclI and XbaI) and STR (introns 13 and 22) markers for linkage analysis in factor VIII gene was determined in 100 normal individuals. The observed heterozygosity for RFLP markers HindIII, BclI and XbaI was 0.63, 0.60 and 0.48 while that of STR markers introns 13 and 22 were 0.60 and 0.40 respectively. Six and four alleles were identified for introns 13 and 22 and the most frequent allele was 13(CA)26 and 22(AG)n(GT)26 with an allele frequency of 0.53 and 0.62 respectively. The heterozygosities observed for RFLP markers was higher (>70%) than the STR markers (50%) in the affected families with haemophilia A. Inversion mutation was detected in 37% of severely affected patients. Based on present and previous studies from India, a strategy has been proposed to provide molecular diagnosis to a large number of undiagnosed cases of haemophilia A.

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Copy and paste a formatted citation
Spandidos Publications style
Pandey GS, Phadke SR and Mittal B: Carrier analysis and prenatal diagnosis of haemophilia A in North India. Int J Mol Med 10: 661-664, 2002.
APA
Pandey, G.S., Phadke, S.R., & Mittal, B. (2002). Carrier analysis and prenatal diagnosis of haemophilia A in North India. International Journal of Molecular Medicine, 10, 661-664. https://doi.org/10.3892/ijmm.10.5.661
MLA
Pandey, G. S., Phadke, S. R., Mittal, B."Carrier analysis and prenatal diagnosis of haemophilia A in North India". International Journal of Molecular Medicine 10.5 (2002): 661-664.
Chicago
Pandey, G. S., Phadke, S. R., Mittal, B."Carrier analysis and prenatal diagnosis of haemophilia A in North India". International Journal of Molecular Medicine 10, no. 5 (2002): 661-664. https://doi.org/10.3892/ijmm.10.5.661
Copy and paste a formatted citation
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Spandidos Publications style
Pandey GS, Phadke SR and Mittal B: Carrier analysis and prenatal diagnosis of haemophilia A in North India. Int J Mol Med 10: 661-664, 2002.
APA
Pandey, G.S., Phadke, S.R., & Mittal, B. (2002). Carrier analysis and prenatal diagnosis of haemophilia A in North India. International Journal of Molecular Medicine, 10, 661-664. https://doi.org/10.3892/ijmm.10.5.661
MLA
Pandey, G. S., Phadke, S. R., Mittal, B."Carrier analysis and prenatal diagnosis of haemophilia A in North India". International Journal of Molecular Medicine 10.5 (2002): 661-664.
Chicago
Pandey, G. S., Phadke, S. R., Mittal, B."Carrier analysis and prenatal diagnosis of haemophilia A in North India". International Journal of Molecular Medicine 10, no. 5 (2002): 661-664. https://doi.org/10.3892/ijmm.10.5.661
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