No abstract available.
Education, Medical*

The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1. In this report, we present a rare case involving simultaneous translocation of the TCR alpha/delta loci with different partner loci (Xq22 and 12p13); this resulted in a poor prognosis. Chromosomal analysis showed 46,Y,t(X;14)(q22;q11.2),t(12;14)(p13;q11.2) and FISH analysis by using a T-cell receptor alpha delta DNA probe, Split Signal (DakoCytomation, Denmark), showed translocations at the same TCR alpha/delta locus on both chromosomes. FISH with 2 bacterial artificial chromosome clones showed break apart signal, which suggests involvement of the IRS4 gene. To our knowledge, this is the first report of T-ALL in which both TCR alpha/delta loci were translocated with different partner loci, and 1 of the partner loci, Xq22, was a rare translocation partner locus that included IRS4 gene.
Adult ; Chromosomes, Human, Pair 12 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, X ; Genetic Loci ; Humans ; Insulin Receptor Substrate Proteins/genetics ; Karyotyping ; Male ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/*genetics/pathology ; Receptors, Antigen, T-Cell/*genetics ; *Translocation, Genetic

BACKGROUND: Recent studies have implicated paraoxonase (PON), an HDL-associated enzyme, in providing protection against LDL oxidation, thus affecting the risk of coronary heart disease in general population. Serum PON activity is affected by PON gene polymorphism. We investigated the correlation between the PON2 codon 311 polymorphism (Cys-->Ser) and coronary heart disease in Koreans. METHODS: The subjects consisted of 145 healthy controls and 72 patients with coronary heart disease who were diagnosed by coronary angiography in Soonchunhyang University Hospital. The polymorphism at 311 codon in the PON2 gene was assessed by PCR-RFLP (restriction fragment length polymorphism) in their blood leukocyte DNA. RESULTS: PON2 genotype frequencies among 145 healthy controls were 7.6% CC, 37.2% CS and 55.2% SS (C:S = 0.250:0.750). PON2 genotype frequencies among 72 patients with coronary heart disease were 4.2% CC, 41.7% CS and 54.1% SS (C:S = 0.262:0.738). There was no significant difference between the two groups in genotype frequency or the allele frequency. There was no correlation between the PON2 polymorphism and HDL cholesterol level. CONCLUSIONS: The polymorphism at codon 311 in the PON2 gene are not associated with coronary heart disease in Koreans.
Aryldialkylphosphatase* ; Cholesterol, HDL ; Codon ; Coronary Angiography ; Coronary Disease* ; DNA ; Gene Frequency* ; Genotype ; Humans ; Leukocytes