Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/196475
Type: Artigo de periódico
Title: Rhnull Syndrome: Identification Of A Novel Mutation In Rhce.
Author: Rosa, K A
Reid, M E
Lomas-Francis, 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
Abstract: 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. 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. 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. 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.
Subject: Adult
Base Sequence
Codon, Terminator
Erythrocytes
Exons
Female
Frameshift Mutation
Gene Deletion
Guanine
Homozygote
Humans
Molecular Sequence Data
Mutation
Pedigree
Rh-hr Blood-group System
Syndrome
Transcription, Genetic
Rights: fechado
Identifier DOI: 10.1111/j.1537-2995.2005.00605.x
Address: http://www.ncbi.nlm.nih.gov/pubmed/16271106
Date Issue: 2005
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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