Objective To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease （HD） family, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD. Methods According to the principle of informed consent, we extracted genomic DNA from peripheral blood samples and carried genetic diagnosis of pathogenic exon 1 of IT15 gene by modified touchdown PCR and DNA sequencing methods. Results Eight of twenty-five family members carried abnormal allele： Ⅲ10 Ⅲ12, IIIt4, Ⅳ3, and Ⅴ2 carded （CAG） 48, Ⅳ11 and Ⅳ12 carried （CAG） 67, and Ⅳ14 carried （CAG） 63, in contrast with the 8-25 CAG trinucleotides in the members of control group. Ⅳ14 carried 15 more CAG trinucleotides than her father Ⅲ10. Conclusion The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. In addition, CAG expansion results in juvenile-onset and anticipation （characterized by earlier age of onset and increasing severity） of the patientⅣ12.
Objective： To investigate the inhibitory effect of interferon-α （IFN-α） and curcumin on proliferation of Raji cells （B-NHL） and its mechanism. Methods： The morphological, changes of Raji cells were observed in culture medium with IFN-α （500, 1000, 2000, 3000 U/L） and various concentrations of curcumin （6.25, 12.5, 25 μmol/L） for different time in vitro. The inhibitory ratio was measured by MTT assay. Apoptosis was detected by flow cytometry （FCM）. The expression of caspase 6, caspase 8 and caspase 9 in Raji cells treated with IC5025 μmol/L curcumin with IFN-α was examined using Western blot. Results： IFN-α and curcumin could significantly inhibit the growth and induce apoptosis of RAji cells with synergistic effects. They could increase the expression of caspase 6, caspase 8 and caspase 9 in Raji cells in a dose- and time-dependent manner. Conclusion： The combined use of IFN-α and curcumin can inhibit the proliferation of B-NHL Raji cells apparently in vitro. Promotion of the expression of caspase 6, caspase 8, caspase 9 and induction of apoptosis might be one of the important mechanisms.
