Multiplex ligation-dependent probe amplification and its application / 中华医学遗传学杂志

Multiplex ligation-dependent probe amplification (MLPA) is a semiquantitative analysis based on polymerase chain reaction (PCR). It possesses many advantages such as high efficiency, simple operation, low cost and has been wildly applied in researches of diseases associated with copy number variation, point mutation and methylation. Recently, MLPA is combined with DNA chip to become a real high-throughput method and get great improvement in reliability. Here, the progresses of methods and application of MLPA, as well as its limitations are reviewed.

Suppression of enhanced green fluorescent protein expression in cells by RNA interference / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the role of RNA interference (RNAi) in silencing the enhanced green fluorescent protein (eGFP) expression in 293T and Mel cells.</p><p><b>METHODS</b>Nested-PCR was used to amplify H1 promoter from human 293T cells for driving RNAi synthesis. RNAi vectors (TR1) for silencing the eGFP expression was constructed. The eGFP vector and RNAi vector (TR1) were then co-transfected into the 293T and Mel cells, in which the silencing effect on eGFP expression was investigated by fluorescence microscopy, reverse transcription-PCR(RT-PCR), fluorescence-assited cell sorting(FACS) analysis and real-time RT-PCR.</p><p><b>RESULTS</b>RNAi could effectively reduce more than 50 percent of eGFP expression in 293T cells as well as in Mel cells.</p><p><b>CONCLUSION</b>The RNAi vector constructed in this way paper can effectively inhibit eGFP expression in cells.</p>

A Korean Family with Thalassemia Intermedia due to Co-inheritance of Triplicated alpha-Globin Genes (alphaalpha/alphaalphaalphaanti3.7) and beta-Thalassemia Trait (IVSII-1 G -> A) / 대한혈액학회지

We report a Korean family in which the interaction of a triplicated alpha-globin locus and a heterozygous beta-thalassemia gives rise to a clinical phenotype of thalassemia intermedia. The propositus, a 36year-old woman, was evaluated because of moderately severe chronic anemia. Molecular analysis revealed heterozygosity for a single beta-thalassemia mutation, IVSII-1 (G->A). Additionally, she was found to have co-inherited a triplicated alpha-globin gene (alphaalpha/alphaalphaalphaanti3.7). In contrast, her brother heterozygous for the same triplicated alpha-locus and beta-thalassemia was clinically normal, suggesting that the delicate balance between alpha- and beta-chains is controlled by other currently not identified factors. Thalassemia intermedia due to co-inheritance of alphaalpha/alphaalphaalphaanti3.7 and IVSII-1 (G->A) was rare, and in Korea, this patient is the first case of thalassemia intermedia attributable to this combined abnormalities.