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Insights into the Holley– and Joseph– phenotypes
Author(s) -
Rios Maria,
HueRoye Kim,
Øyen Ragnhild,
Miller Jeffrey,
Reid Marion E.
Publication year - 2002
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.1537-2995.2002.00004.x
Subject(s) - phenotype , proband , antigen , microbiology and biotechnology , mutation , biology , genetics , 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 ]). Hy and Jo a have an unusual phenotypic relationship. All Hy– RBCs are Jo(a–), but not all Jo(a–) RBCs are Hy–. The molecular background associated with Hy– and Jo(a–) phenotypes is reported. STUDY DESIGN AND METHODS: DNA from 18 probands with Gy(a+ w ) Hy– Jo(a–) RBCs (Hy– phenotype) and from 13 probands with Gy(a+) Hy+ w Jo(a–) RBCs (Jo[a–] phenotype) was tested. RESULTS: Sequencing and PCR‐RFLP revealed 323 G>T (Gly108Val) and 378 T>C (silent mutation) changes on a DOB background ( HY ) associated with the Hy– samples. The sister of the original Hy– proband and the majority of samples had an additional mutation of 898 C>G (Leu300Val) ( HY1 ); others had 898C (300Leu) ( HY2 ). In the Jo(a–) phenotype, there is a 350 C>T (Thr117Ile) and a 378 C>T (silent mutation) change on a DOA background ( JO ). CONCLUSION: The results provide an explanation for the variation in typing results in antibody producers. The ablation of Jo a in the Hy– phenotype and the weakening of Hy in the Jo(a–) phenotype may be due to the close proximity of these antigens. The 898 C>G mutation, within the sequence motif for glycosylphosphatidylinositol linkage, may cause reduced efficiency of anchoring the protein to the RBC membrane, thereby weakening the expression of Gy a and Do b .