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Factor IX gene polymorphisms in Indian population.

M R Chowdhury1, M Kabra, P S Menon

  • 1Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India. mrc@medinist.ernet.in

American Journal of Hematology
|January 5, 2002
PubMed
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This study analyzed genetic markers for Hemophilia B in the Indian population. The Dde I, Hha I, and Xmn I markers show high cumulative informativeness for carrier detection and prenatal diagnosis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • Hemophilia B is an X-linked recessive disorder affecting coagulation factor IX.
  • Genetic variations, specifically restriction fragment length polymorphisms (RFLPs), exist within the factor IX gene.
  • The frequency of these RFLPs varies significantly across different ethnic populations.

Purpose of the Study:

  • To determine the heterozygosity and allele frequencies of three factor IX gene polymorphic sites (Dde I, Xmn I, Hha I) in the Indian population.
  • To evaluate the informativeness of these markers for carrier detection and prenatal diagnosis of Hemophilia B.
  • To compare RFLP patterns in the Indian population with other ethnic groups.

Main Methods:

  • Polymerase chain reaction (PCR) and RFLP analysis were employed.

Related Experiment Videos

  • Analysis focused on two intragenic markers (Dde I, Xmn I) and one extragenic marker (Hha I).
  • Heterozygosity and allele frequencies were calculated for the Indian population.

    • Main Results:

    • In the Indian population, the Dde I marker exhibited 69.0% informativeness, Hha I showed 38.0%, and Xmn I displayed 23.0%.
    • The combined informativeness of these three markers ranged from 80% to 82%.
    • Heterozygosity rates in Indians were comparable to Caucasians and American Blacks, but significantly different from Oriental populations.

    Conclusions:

    • The analyzed markers (Dde I, Hha I, Xmn I) are highly informative for Hemophilia B carrier detection and prenatal diagnosis in the Indian population.
    • PCR-RFLP is an economical and simple method for this genetic analysis.
    • Genetic marker frequencies for Hemophilia B show distinct patterns across different ethnic groups.