ABSTRACT
This study was aimed to explore the usefulness of multiplex reverse transcription-polymerase chain reaction (multiplex RT-PCR) in detection of fusion genes associated with specific translocations in acute leukemia (AL) patients with normal karyotypes. 37 AL patients with normal karyotypes were analyzed by multiplex RT-PCR. The results showed that 4 types of fusion genes such as PML/RARA, AML1/ETO, CBFbeta/MYH11, BCR/ABL were detected in 8 (21.6%) patients by multiplex RT-PCR. In conclusion, multiplex RT-PCR is useful in detection of fusion genes associated with specific translocations in acute leukemia (AL) with normal karyotypes and it would refine the karyotype analysis. When the normal karyotypes were detected in acute leukemia patients by conventional cytogenetic method, the multiplex RT-PCR should be performed for them.
Subject(s)
Leukemia/genetics , Oncogene Proteins, Fusion/genetics , Reverse Transcriptase Polymerase Chain Reaction/methods , Translocation, Genetic/genetics , Acute Disease , Adolescent , Adult , Aged , Aged, 80 and over , Cytogenetic Analysis , Female , Humans , Karyotyping , Leukemia, Myeloid, Acute/genetics , Male , Middle Aged , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , PrognosisABSTRACT
Objective To explore the incidence and distribution features of neonatal phenylketonuria(PKU) and congenital hypothyroidism(CH) in Lianyungang area.Methods The heel blood samples dried on filter paper was collected from newborns after 72 hours.As the screening indicators,PKU was detected through serum phenylalanine concentration(Phe) detection by Guthrie′s bacterial inhibition assay and CH was detected through serum thyroid stimulating hormone(TSH) levels detection by time-resolved fluorometry(TRFIA) or enzyme linked immunosorbent assay(ELISA).Results Sixty-four children with CH were diagnosed and the rate of CH was 1∶2423,41 patients were examined by thyroid gland nuclein kinescope picture,among which there were 23 patients whose thyroid glands were unusal.These patients lived in 45 towns(streets),which had no difference between men and women,city and country side.A couple of twins were screened for CH;15 cases of PKU was detected with an incidence of 1∶10 339.These patients′ parents were neither consanguineous marriage nor dominance hereditary family history.Their physical and mental development were similar to the same age children after interventive treatment.Conclusions The distribution of CH and PKU is diffuse in Lianyungang.Neonatal screening is the only valid means to find patients with CH and PKU.
ABSTRACT
This paper reported a new type of amylase (neoamylase) secreted by a Bacillus strain ZX99. The enzyme was a kind of ectoenzyme that could catalyze starch into isomalto-oligosaccharide effectively, but could not act on pullulan as substrate. The strain Bacillus ZX99 was mutated by ultraviolet ray and a mutant strain BS3.232 was screened. The activity of the neoamylase produced from BS3.232 increased by 60% over that from ZX99 under the same conditions. The results of thin-layer chromatography of products from starch and pullulan catalyzed by the enzyme demonstrated that the enzyme was different from neopullulanase and can be used to produce isomaltooligosaccharide from starch, including isomaltose, panose, isomaltotriose, isomaltotetose.
