Premium
Rh null syndrome: identification of a novel mutation in RHce
Author(s) -
Rosa K.A.,
Reid M.E.,
LomasFrancis C.,
Powell V.I.,
Costa F.F.,
Stinghen S.T.,
Watanabe A.M.,
Carboni E.K.,
Baldon J.P.,
Jucksch M.M.F.,
Castilho L.
Publication year - 2005
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.1537-2995.2005.00605.x
Subject(s) - microbiology and biotechnology , frameshift mutation , genetics , null allele , biology , mutation , rh blood group system , exon , stop codon , antibody , gene , allele
BACKGROUND: The deficiency of Rh proteins on red blood cells (RBCs) from individuals of the Rh null amorph type are the result of homozygosity for a silent RHCE in cis with a deleted RHD . A novel mutation in RHce was identified in two Caucasian Brazilian girls with the amorph type of Rh null who were born to parents who were first cousins. STUDY DESIGN AND METHODS: RBCs from the Rh null sisters and from family members were analyzed by serology and flow cytometry with specific antibodies. Genomic DNA and transcripts were tested by polymerase chain reaction and sequence analysis. RESULTS: Rh null RBCs were nonreactive with anti‐Rh and anti‐LW. Molecular analyses showed a deletion of RHD and of one nucleotide (960/963; GGGG→ GGG ) in exon 7 of the RHce . This deletion introduced a frameshift after Gly321, a new C‐terminal sequence, and a premature stop codon, resulting in a shorter predicted protein with 357 amino acids. CONCLUSION: The detection of a unique RHce transcript indicated that the two sisters were homozygous, whereas the other family members were heterozygous for the mutation. A novel mutation resulting in the amorph Rh null with loss of Rh antigen expression is described.