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Establishing RHD zygosity in India: a step into the future of foetal and neonatal haemolytic disease prevention
Author(s) -
Aggarwal S.,
Arya V.,
Agarwal S.
Publication year - 2011
Publication title -
transfusion medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.471
H-Index - 59
eISSN - 1365-3148
pISSN - 0958-7578
DOI - 10.1111/j.1365-3148.2010.01060.x
Subject(s) - zygosity , genotyping , concordance , genotype , polymerase chain reaction , biology , restriction fragment length polymorphism , virology , genetics , immunology , medicine , gene
Background: Determination of RHD zygosity is important for the prevention of haemolytic disease of foetus and neonate. There is no data from India regarding the prevalence of RHD genotypes. Objectives: We conducted this study to investigate RHD zygosity in phenotypically RhD positive (RhD+) Indians. We have also investigated the utility and concordance of two different genotyping techniques. Methods: Hundred serologically RhD+ Indians were genotyped at the RHD gene using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and polymerase chain reaction–sequence‐specific primer (PCR–SSP) techniques. Results : Of the 100 RhD+ individuals, 26 (25%) were D heterozygous by both methods and 74 (71·2%) were D homozygous. There was no discordance in the results from the two techniques. Conclusion: At least 25% of RhD+ Indians are heterozygous at the RHD gene. Both the genotyping techniques were equally robust and their complete concordance indicates RHD deletion as the main mechanism underlying RhD negativity in Indians.