Assuntos
Sistema ABO de Grupos Sanguíneos/genética , Polimorfismo de Nucleotídeo Único , Sistema ABO de Grupos Sanguíneos/sangue , Alelos , Substituição de Aminoácidos/genética , Família , Feminino , Estudos de Associação Genética , Genótipo , Antígenos HLA-A/sangue , Antígenos HLA-A/genética , Antígenos HLA-A/imunologia , Teste de Histocompatibilidade , Humanos , Masculino , Linhagem , República da Coreia , Testes SorológicosRESUMO
OBJECTIVE: The JR blood group system, officially designated ISBT JR 032, consists of a single antigen called Jra. This is a high frequency antigen in most populations. The Jr(a-) phenotype is more prevalent in Japanese and Asian populations. Individuals with the Jr(a-) blood type can be recognized incidentally by the production of anti-Jr(a) antibodies and verified by the existence of two null ABCG2 alleles. METHODS: We used direct sequencing to analyze the genotype frequency of the ABCG2 null allele (c.376C>T, rs72552713) and compared it with East Asian genomic databases. We developed tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), which is a simple, precise method for determining an individual's genotype and suitable for clinical use, and analyzed a cohort of 300 healthy Koreans. RESULTS: Using direct sequencing, we found that 14 individuals in the cohort carried a heterozygous ABCG2 null allele. We optimized the ARMS-PCR technique to detect and identify this null allele precisely. We identified the presence of this null allele in a heterozygous state using ARMS-PCR. CONCLUSION: The minor allele frequency of the ABCG2 null allele in the Korean cohort was 2.3%. The estimated genotype frequencies of homozygotes and heterozygotes for this null allele are 0.05% and 4.56%, respectively. The newly developed ARMS-PCR assay would be useful for determining the Jr(a-) antigen status in patients who produce anti-Jr(a) antibodies as well as for selecting Jr(a-) blood donors.
Assuntos
Membro 2 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Povo Asiático , Antígenos de Grupos Sanguíneos , Frequência do Gene , Genótipo , Reação em Cadeia da Polimerase , Humanos , Antígenos de Grupos Sanguíneos/genética , Frequência do Gene/genética , Reação em Cadeia da Polimerase/métodos , Povo Asiático/genética , Membro 2 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Alelos , Primers do DNA/genética , Proteínas de Neoplasias/genética , República da Coreia , Feminino , População do Leste AsiáticoRESUMO
Cortriatriatum is a rare congenital cardiac disorder with fibromuscular band (diaphragm) dividing the left atrium (LA) into the proximal and distal parts. Surgical correction of cortriatriatum requires full preoperative evaluation of the structural anomalies including the LA diaphragm and their pathophysiology. In the present case, a 44 year-old lady diagnosed as cortriatriatum underwent surgical correction. Intraoperative three-dimensional transesophageal echocardiography provided detailed information regarding the shape and extent of the LA diaphragm, which had been partially evaluated by preoperative two-dimensional transthoracic and transesophageal echocardiography, and facilitated the intraoperative patient management and surgical decision making.