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Molecular basis of the Dombrock null phenotype
Author(s) -
Rios Maria,
HueRoye Kim,
Storry Jill R.,
Lee Terry,
Miller Jeffery L.,
Reid Marion E.
Publication year - 2001
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1046/j.1537-2995.2001.41111405.x
Subject(s) - exon , frameshift mutation , biology , genetics , phenotype , microbiology and biotechnology , stop codon , complementary dna , null allele , mutation , gene
BACKGROUND: The Dombrock blood group system consists of two antithetical antigens, Do a and Do b , and three high‐incidence antigens, Gregory (Gy a ), Holley (Hy), and Joseph (Jo a ). The null phenotype of the Dombrock blood group system (Do null ) was identified when it was found that Gy(a–) RBCs also lack Do a , Do b , Hy, and Jo a . STUDY DESIGN AND METHODS: DNA from three Gy(a–) persons was analyzed. PCR products for each of the three DO exons and their flanking intronic regions were sequenced in both directions. The cDNA from two of the people was subjected to PCR using primers in exon 1 and exon 3, and the products were sequenced. RESULTS: The Do null phenotype is associated with a single nucleotide mutation in the acceptor splice site of DO (IVS1–2a>g), which results in outsplicing of exon 2. CONCLUSION: Outsplicing of exon 2 is predicted to cause a –1 frameshift and a premature stop codon. Any product of such a transcript would lack the glycosyl‐phosphatidylinositol‐anchor motif, and RBCs would be devoid of the Do glycoprotein.