Assuntos
Encefalopatias/etiologia , Imunoglobulinas Intravenosas/efeitos adversos , Transplante de Rim/efeitos adversos , Doença Aguda , Adolescente , Doença de Caroli/complicações , Doença de Caroli/cirurgia , Rejeição de Enxerto/terapia , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Masculino , Rim Policístico Autossômico Recessivo/complicações , Rim Policístico Autossômico Recessivo/cirurgia , TransplantadosRESUMO
A mother and son presented with mild symptoms of thalassemia trait. Polymerase chain reaction (PCR) amplification of their globin genes revealed a previously unreported 203 bp microdeletion in the HBA2 gene (NG_000006.1:g.34305_34507del; HBA2:c301-30_*44del). Both mother and son were heterozygous for the deletion which included DNA coding for all of exon 3. DNA sequence analysis revealed a six nucleotide repeat (5'-CGGGCC-3') flanking the breakpoint, suggesting that the microdeletion may have arisen as a result of reciprocal recombination within the HBA2 alleles.
Assuntos
Éxons/genética , Hemoglobina A2/genética , Talassemia alfa/genética , Adulto , Sequência de Bases , Criança , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase , Deleção de SequênciaRESUMO
Hb St. Etienne [beta92(F8)HisGln] (also known as Hb Istanbul) is a rare unstable beta-globin chain variant that has been described in only three reports involving four patients. We report two individuals in a family of Scottish extraction whose members had been erroneously diagnosed to have hereditary spherocytosis (HS) and have now been shown to be heterozygotes for Hb St. Etienne. They also had venous thrombotic events with minimal provocation. This family illustrates the difficulties in identifying the cause of chronic hemolytic anemia and highlights the possible contribution of chronic hemolysis to increased risk of thrombosis.
Assuntos
Hemoglobinas Anormais/genética , Trombose Venosa/genética , Adolescente , Sequência de Bases , Análise Mutacional de DNA , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Escócia , Esferocitose Hereditária/diagnósticoRESUMO
A proportion of individuals vaccinated with live attenuated Oka varicella-zoster virus (VZV) vaccine subsequently develop attenuated chicken pox and/or herpes zoster. To determine whether postvaccination varicella infections are caused by vaccine or wild-type virus, a simple method for distinguishing the vaccine strain from wild-type virus is required. We have developed a TaqMan real-time PCR assay to detect and differentiate wild-type virus from Oka vaccine strains of VZV. The assay utilized two fluorogenic, minor groove binding probes targeted to a single nucleotide polymorphism in open reading frame 62 that distinguishes the Oka vaccine from wild-type strains. VZV DNA could be genotyped and quantified within minutes of thermocycling completion due to real-time monitoring of PCR product formation and allelic discrimination analysis. The allelic discrimination assay was performed in parallel with two standard PCR-restriction fragment length polymorphism (RFLP) methods on 136 clinical and laboratory VZV strains from Canada, Australia, and Japan. The TaqMan assay exhibited a genotyping accuracy of 100% and, when compared to both PCR-RFLP methods, was 100 times more sensitive. In addition, the method was technically simpler and more rapid. The TaqMan assay also allows for high-throughput genotyping, making it ideal for epidemiologic study of the live attenuated varicella vaccine.
