[A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].

This article reports the results of tandem mass spectrometry and the mutation features of the ETFDH gene for an infant with multiple acyl-CoA dehydrogenase deficiency. The results of tandem mass spectrometry showed that C14 : 1, C8, C6, C10, and C12 increased. Exon sequencing was performed on this infant and his parents and revealed double heterozygous mutations in the ETFDH gene of the infant: c.

[Identification of human small supernumerary marker chromosomes and discussion of its research value].

Objective: To identify the origin of human small supernumerary marker chromosomes (sSMCs) using fluorescent in situ hybridization (FISH) combined with G-banding karyotype analysis, and to discuss their mechanisms of formation and research value.

Methods: Cep-FISH and SubcenM-FISH were used to analyze sSMCs in 3 patients for whom the result of G-banding was 47,XN,+mar.

Results: The FISH result of case 1 was 47,XY,+mar.

[Correlation of high expression of HSP27 to multidrug resistance of leukemia cell line K562/VCR].

Background & Objective: Multidrug resistance (MDR) is a major obstacle preventing effective treatment of leukemia. The mechanisms of MDR in leukemic cells have been broadly explored, but they are still unclear. We used proteomic tools to screen MDR-related proteins in vincristine-resistant leukemia cell line K562/VCR, and analyzed the mechanism of MDR in leukemia.