Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/79841
Type: Artigo de periódico
Title: Rh-null syndrome: identification of a novel mutation in RHce
Author: Rosa, KA
Reid, ME
Lomas-Francis, C
Powell, VI
Costa, FF
Stinghen, ST
Watanabe, AM
Carboni, EK
Baldon, JP
Jucksch, MMF
Castilho, L
Abstract: 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.
Country: Inglaterra
Editor: Blackwell Publishing
Rights: fechado
Identifier DOI: 10.1111/j.1537-2995.2005.00605.x
Date Issue: 2005
Appears in Collections:Unicamp - Artigos e Outros Documentos

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