ABSTRACT
Objective To detect the incidence of inherited metabolic diseases(IMD)and disorders of metabo-lism in 4 710 high - risk infants,as well as providing basis of clinical diagnosis and treatment by using urease pretreat-ment - gas chromatography - mass spectrometry(UP - GC - MS). Methods Samples were collected from high - risk infants with IMD,after removing urea,putting in internal standard,removing protein,vacuum drying and bis (trimethyl - silyl)trifluoroacetamide / trimethyl - chlorosilane derivativing,UP - GC - MS was used to analyze compo-sitions such as organic acids,amino acids,carbohydrates,pyridoxines,purines and pyrimidines,then metabolic analysis was proceeded to refer to the normal detection value of the healthy children,finally a metabolic diagnosis was made ba-sing on the clinical data such as the high - risk clinical manifestations and general biochemical tests and other special examinations. Results In the 4 710 cases,there were 98 cases of IMD(2. 1% ),326 cases of suspected IMD(6. 9% ), 2 610 cases of metabolic disorders(55. 4% ). There were 98 cases of IMD,including 57 cases of methylmalonic aciduria,12 cases of propionic acidemia,7 cases of glutaric aciduria,5 cases of hyperphenylalaninemia,maple syrup u-rine disease and multiple carboxylase defects each,4 cases of isovaleric acidemia and 3 cases of 4 - hydroxy butyric acid urine disease. Conclusions UP - GC - MS is a effective way to diagnose IMD and metabolic disorders of infants. Common IMD in Guangdong Province include methylmalonic aciduria,propionic academia,glutaric aciduria,hyperphe-nylalaninemia,maple syrup urine disease and multiple carboxylase defects. The results of the tests can provide effective guidance for diagnosis and treatment of suspected infants.
ABSTRACT
Chronic myeloid leukemia (CML) appears an ideal and exciting immunological target. Novel and rational immunotherapy may therefore play an important adjuvant role in the treatment of CML patients. Peptides derived from the BCR-ABL fusion region have been shown to be immunogenic and are able to stimulate the production of BCR-ABL-specific T cell lines and clones. In this study, A 280 bp multiple epitope region of BCR-ABL fusion antigen was designed and synthesized. This region contains three BCR-ABL antigen epitopes which can bind to HLA-A2, HLA-A3 and HLA-DR11 molecules, respectively, and epitopes of cholera toxin B (CTB) and tetanus toxoid (TT) which are able to elicit vigorous T cell responses. The fusion antigen gene has highly been expressed in E. coli and the purified fusion protein reserved satisfied activity and antigenicity. The results of this investigation provided a basis for further research on the developing specific T cell immunotherapy of CML.
ABSTRACT
Objective To investigate the point mutation of the open reading frame of cytochrome P-450 lanosterol 14-? demethylase gene ERG11. Methods In order to identify such alterations, the DNA was extracted by enzyme lysis methods and the PCR was performed. The PCR products were purified and cloned into PBS vector, then transformed into DH5? and sequenced. Results Twenty nine point mutations were identified in this 15 resistant isolates, most of which were different from susceptible strains. The mutations included 12 missense substitutions: F72L, D81G, D116E, K128T, Y132H, E266D, D294G, S361P, M374V, P386L, H400R, and Q474K, of which 6 had not been described previously (D294G, S361P, M374V, P386L, H400R, and Q474K). The other mutations included a frameshift, and 17 silent mutations. Conclusions The point mutation of resistant isolate is different from that of the susceptible isolate. It is suggested that the drug resistance is related with by the newly found alterations, including D294G, S361P, M374V, P386L, H400R, Q474K, and a frameshift.