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Tetragametic chimerism detected in a healthy woman with mixed-field agglutination reactions in ABO blood grouping. | LitMetric

AI Article Synopsis

  • A healthy woman with blood type AB was found to have a biological father with blood type O, leading to the discovery of tetragametic chimerism through extensive genetic testing.
  • Various methods including blood tests, genotyping, and karyotyping revealed the woman's red blood cells showed AB type but contained genetic markers for A, B, and O alleles, indicating mixed genetic contributions.
  • The study concluded that the rare condition of tetragametic chimerism resulted from the woman receiving genetic material from both her biological parents, confirmed through DNA analysis.

Article Abstract

Background: The case of a healthy woman with serologic blood group AB and her biologic father showing blood group O was investigated. Further analysis, including blood, buccal swabs, and nail clippings, revealed a tetragametic chimerism.

Study Design And Methods: Blood grouping was performed with standard gel centrifugation test cards, ABO genotyping by sequence-specific primers (SSPs) and sequence-based typing, and HLA Class I and II typing by standard NIH cytotoxicity testing and SSP. Additionally, short-tandem-repeat (STR) and variable-number tandem-repeat (VNTR) typing was performed on blood, nail clippings, and buccal swab samples. The karyotype was analyzed by G-banded chromosomes.

Results: The proposita's RBCs were typed AB with a mixed-field agglutination whereas in molecular typing A, B, and O alleles were found. One paternal and two maternal haplotypes were determined by use of HLA typing. Interestingly, both paternal alleles were detected in 4 of 23 tested STR and VNTR loci only, with whole blood, nail clippings, and buccal swabs. The karyotype was identified as 46XX. The family members including the proposita's healthy twin children displayed no abnormal findings in tests performed.

Conclusion: By investigation of DNA polymorphisms, it was possible to determine a rare case of tetragametic chimerism being the result of double parental contribution of nuclei.

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Source
http://dx.doi.org/10.1111/j.1537-2995.2005.04304.xDOI Listing

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