[Prenatal diagnosis of β-thalassaemia using cell-free fetal DNA in maternal plasma].

Objective: To investigate the clinical feasibility of cell-free fetal DNA (cffDNA)-based noninvasive prenatal diagnosis of β-thalassemia.

Methods: Nine samples of amniotic fluid were obtained to detect the 8 common and 9 relatively rare mutation sites of β-thalassaemia in Guangdong Province. The maternal blood samples were also collected for extracting and purification of the cffDNA, and a duplex PCR was performed using 3 pairs of primers and the fetal β-globin genotype was analyzed by reverse dot-blot hybridization.

Molecular characterization of a Chinese pedigree with beta-thalassemia intermedia.

Hereditary persistence of fetal hemoglobin (HPFH), often associated with mutations in the beta-globin gene cluster, is normally benign, but a person carrying both HPFH and another beta-thalassemia (beta-thal) mutation will develop serious anemia. These people might be erroneously diagnosed as having homozygous beta-thal with common reverse dot-blot methods. Here we report a 5-year old boy with thalassemia intermedia, who is a compound heterozygote for the rare HPFH-6 deletion with codons 41/42 (-TCTT) beta(0)-thal, who inherited the deletion from his mother and the beta(41/42) mutation from his father.

[Rapid detection of oxacillin and erythromycin resistance genes in Staphylococcus aureus using multiplex PCR].

Objective: To establish a rapid multiplex PCR (MPCR) detection system of oxacillin and erythromycin resistance genes in Staphylococcus aureus (S. aureus) and evaluate the genotype distribution of the genes associated to mecA, ermA and ermC resistance in Guangzhou.

Methods: The S.

[Induced differentiation and signaling factor PTEN expression of 3T3-L1 adipocytes].

Objective: To optimize the condition for inducing the differentiation of 3T3-L1 preadipocytes into adipocytes and study the expression of PTEN tumor suppression gene in this process, aiming to understand the regulatory role of PTEN in normal adipocyte differentiation and collect laboratory evidence for developing drugs targeting PTEN.

Methods: The differentiation of 3T3-L1 preadipocytes cultured in high-glucose DMEM were induced according to 2 protocols with different combinations of dexamethasone, isobutylmethylxanthine (IBMX) and insulin, and the resultant adipocytes were identified by oil red O staining. The total proteins of 3T3-L1 were extracted and analyzed by Western blotting, and PTEN homology between mice and human was analyzed by bioinformatic method.