ABSTRACT
HLA-DQB1*03:457 differs from HLA-DQB1*03:02:01:01 by a non-synonymous nucleotide substitution in codon 95, changing valine to glutamic acid.
Subject(s)
Kidney Transplantation , Alleles , HLA-DQ beta-Chains/genetics , Humans , Republic of KoreaABSTRACT
The novel HLA-C*03:539 allele differs from HLA-C*03:04:01:01 by one nucleotide substitution at codon 26.
Subject(s)
HLA-C Antigens , Kidney Transplantation , Alleles , Genes, MHC Class I , HLA-C Antigens/genetics , Humans , Sequence Analysis, DNA , Transplant RecipientsABSTRACT
BACKGROUND: Anemia is a common cause among the elderly for increased mortality. Hemoglobin concentration can be affected by many factors, but the reference interval defined by the World Health Organization has not been adjusted for the previous half century. METHODS: Through using the dataset generated by the National Health Insurance (NHI) health screening program of Republic of Korea, here we attempt to present a close to actual hemoglobin concentration of the Korean population. Between January 2009 and December 2013, a total of 57,409,872 health screening events were registered in the NHI database. Following the exclusion criteria, 6,759,566 participants were enrolled for analyses. RESULTS: Significant portion of the study population was considered 'anemic', while the mean value (2.5% ~ 97.5%) of hemoglobin concentration from the study was 14.8 (12.5 ~ 16.8) g/dL in men and 12.8 (10.6 ~ 14.7) g/ dL in women. Concordant results of hemoglobin concentration declining with age were observed as previous studies have described, supporting the need for separate, possibly lower cutoff in the elderly. CONCLUSIONS: A considerable portion of the participants being categorized as anemia contests the accuracy of the current lower cutoff for anemia. From a large representative dataset, the need for adjustment to the lower cutoff for anemia is suggested.
Subject(s)
Anemia/blood , Hemoglobins/analysis , Mass Screening/methods , National Health Programs/statistics & numerical data , Registries/statistics & numerical data , Adult , Aged , Aged, 80 and over , Anemia/diagnosis , Anemia/ethnology , Asian People/statistics & numerical data , Female , Humans , Male , Middle Aged , Reference Values , Republic of Korea , Young AdultSubject(s)
Antineoplastic Combined Chemotherapy Protocols/adverse effects , Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 3 , Gene Fusion , Gene Rearrangement , Leukemia, Myeloid, Acute/genetics , MDS1 and EVI1 Complex Locus Protein/genetics , Proto-Oncogene Proteins c-ets/genetics , Repressor Proteins/genetics , Translocation, Genetic , Chromosome Deletion , Chromosomes, Human, Pair 7/genetics , Genetic Predisposition to Disease , Humans , Karyotyping , Leukemia, Myeloid, Acute/chemically induced , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/drug therapy , Male , Middle Aged , Multiplex Polymerase Chain Reaction , Phenotype , Reverse Transcriptase Polymerase Chain Reaction , ETS Translocation Variant 6 ProteinABSTRACT
The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.
