Clinical and laboratory characteristics of two acute lymphoblastic leukemia patients with dicentric (9; 20) (p11 - 13; q11) / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the morphologic, immunophenotypic, cytogenetic and clinical features of acute lymphoblastic leukemia (ALL) patients with dicentric (9; 20) (p11 - 13; q11).</p><p><b>METHODS</b>Chromosome specimens of bone marrow cells were prepared by direct method and/or short-time culture. Karyo-typing was performed by R-banding technique. Dual-color fluorescence in situ hybridization (FISH) was performed using both chromosome 9 classical satellite probe and chromosome 20 alpha-satellite probe in one patient.</p><p><b>RESULTS</b>The two ALL patients were positive for CD10 and HLA-DR, showing of B cell origin. Both patients had dicentric (9; 20): case 1 was 45, XY, der (9) t (9; 20) (p11; q11), -20[20]; case 2 was 45, XX, der (9) t (9; 20) (p13; q11), t (9; 22) (q34; q11), -20[10]/46, idem, +8[16]/47, idem, +8, +21[14]. Mutual translocation between chromosomes 9 and 20 of the dicentric chromosome was confirmed by FISH in one patient.</p><p><b>CONCLUSIONS</b>Dicentric (9; 20) (p11 - 13; q11) is a rare recurring chromosome abnormality associated with ALL. Because of the subtle nature of the translocation, FISH is essential for the detection of this abnormality.</p>

Clinical and experimental study of two cases of myelodysplastic syndromes with double isochromosome 20q- anomaly / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the clinical and laboratory characteristics of two myelodysplastic syndromes (MDS) patients with double isochromosome 20q- anomaly.</p><p><b>METHODS</b>Bone marrow cell chromosome preparations were made with both direct method and short-term culture. Karyotype analysis was performed by R-banding technique, and dual-color FISH (fluorescence in situ hybridization) by using a 20q telomeric probe and a sequence-specific probe for 20q12.</p><p><b>RESULTS</b>The clinical and hematological findings were comparable with diagnosis of MDS. Karyotype analysis showed that both patients had double isochromosome 20q- anomaly: case 1 is 46, XX, der(20)? i(20q-) [6]/46, idem, der (6) i (6p) [1]/47, idem, +der (20)? i (20q-) [3]/47, idem, der(6)i (6p), +der(20)? i (20q-) [20]; case 2 is 45, XY, -7, der (20)? i (20q-) [17]/46, idem, +der(20) ? i(20q-) [3]. Two derivative chromosomes 20 were proved 20q isochromosomes with interstitial deletions by dual-color FISH in one patient.</p><p><b>CONCLUSIONS</b>Double isochromosome 20q- anomaly is a rare recurrent karyotype abnormality in MDS, and signals a poor prognosis.</p>

Microsequencing, analysis of molecular weight and amino acid composition for pyrimidine 5'-nucleotidase I of human erythrocytes / 中国实验血液学杂志

To further explore the mechanism of congenital pyrimidine 5'-nuleotidase I (P5'N-I) deficiency, on the basis of purification of the protein, the molecular weight and amino acid composition were analysed by mass-spectrograph and amino-acid analyzer, microsequencing and bioinformation analysis of P5'N-I were performed after it was hydrolysed by trypsin. The results showed that three fractions were found in the purified P5'N-I and their molecular weights were 26,952.9, 55,476 and 110,938, respectively. The sequence from one of the peptide fragments was I-E-G-P-T-I-R-Q-I-E. The homologous sequence was not found after comparision with the ten-amino-acid sequence in GenBank by blast procedure. Amino acid analysis indicated that P5'N-I was composed of 18 amino acids at least, and 243 amino acid residues. In conclusion, the enzyme might be an allosteric enzyme, there might be homologous dimer or tetramer in physiological status of normal human erythrocyte, the microsequence could be designed as the probe for fishing the genes of interest. The composition of amino acid might be an important information in determination of its protein primary structure.