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PubMed · 3923668

rG. Potential pitfall in parentage testing.

J L Schornack·K M Beattie
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Abstract

Extensive studies were done on the family of an infant investigated for possible hemolytic disease of the newborn (HDN). Fourteen members in four generations were shown to carry the rG gene with r, R1 or R2. If testing had not included anti-CD(G) serum, three false exclusions of paternity and four of maternity might have resulted in this large Caucasian family. The findings also demonstrated that titration of Rh antisera against the red cells of family members could not be relied upon to assess zygosity or dosage.

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Blood Grouping and CrossmatchingHumansPaternityRh-Hr Blood-Group SystemCase ReportsJournal Article

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J L Schornack, K M Beattie. rG. Potential pitfall in parentage testing.. https://doi.org/10.1046/j.1537-2995.1985.25385219913.x

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RHCE-D-CE hybrid genes can cause false-negative DNA typing of the Rh e antigen.

BACKGROUND AND OBJECTIVES: DNA typing of the human Rh blood groups generally shows good agreement with serologically defined phenotypes. However, in the present report we describe four individuals who were declared Rh e negative by genotyping although they express the Rh e antigen. MATERIALS AND METHODS: Serotyping was performed using mono- and polyclonal Rh antisera. Fluorescent multiplex sequence-specific polymerase chain reactions (PCR-SSPs) identified RHD exons and the polymorphisms usually associated with the Rh E/e or Rh C/c/C(W) antigens. Additional PCR amplification reactions, which were carried out to reveal RHCE-D-CE hybrid genes, analysed exon 5 of the RH genes, the location of the polymorphism (676C-->G) coding for the Rh E and Rh e antigens. RESULTS: Four individuals were identified who expressed Rh e antigens but were negative by PCR-SSP typing for common Rhe-coding sequences. In one family analysed in detail, an RHCE-D5-CE hybrid gene associated with Rh e antigen expression was identified. A concomitant RHcE allele accounted for a seemingly regular typing pattern by conventional RH PCR. CONCLUSIONS: The presence of RHCE-D5-CE hybrid alleles may cause false-negative DNA-typing results for the Rh e antigen that are easily overlooked unless appropriate RH hybrid PCR-SSPs are incorporated into conventional DNA-typing protocols. These and previous data strongly caution against an uncritical interpretation of RH DNA-typing results.

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