Perforin gene mutations in 77 Chinese patients with lymphomas

BACKGROUND:Perforin gene(PRF1) mutations have been reported in patients with lymphoma,but the prevalence and characteristics of PRF1 mutation have not been identified in Chinese patients with lymphoma.METHODS:Seventy-seven patients with lymphoma,including 6 patients with Hodgkin lymphoma and 71 patients with non-Hodgkin lymphoma,were recruited.DNA samples from peripheral blood were used for PRF1 mutation detection by the PCR-sequencing method.RESULTS:Eleven novel PRF1 mutations were found in 8 of the 77 patients with lymphoma.Biallelic or compound monoallelic missense mutations in 3 patients indicated the severe impairment of perforin function,monoallelic missense mutations in 3 patients possibly contributed a genetic predisposition to malignancies,and synonymous mutations in 2 patients showed unknown significance.CONCLUSIONS:The frequency of EBV infection was similar in lymphoma patients with PRF1 mutations and those without the mutations.The same PRF1 mutations were also found in DNA samples from nails or hair follicles from 4 patients with PRF1 mutations,suggesting that these mutations may be of germ-line origin.

Mild moxibustion at different intervention times on the levels of ET-1 and NO in the uterine tissues of rats with cold-damp coagulation and stagnation type dysmenorrhea

Objective： To observe the differences in analgesic effect of moxibustion at different intervention times on dysmenorrhea rats and explore its effect mechanism.Methods： Forty-five female Wistar rats were randomly divided into blank control group（group A）, model group（group B）, pre-moxibustion group（group C）, instant moxibustion group（group D） and pre-instant moxibustion group（group E）,with 9 rats in each group. Cold-damp coagulation and stagnation type dysmenorrhea models were established. In group C,mild moxibustion on ＂Shenque（神阙 CV 8） ＂ and＂Guanyuan（关元 CV 4）＂ was carried out from the time after modeling on the 8 th day for 3 consecutive days. In group D, mild moxibustion was given as the same methods with group C after injection with oxytocin on the 11 th day. In group E, mild moxibustion was given as the same methods from the time after modeling on the 8 th day to that after injection with oxytocin on the 11 th day for 4 consecutive days. The writhing behavior and the changes in levels of ET-1 and NO in uterine tissues of rats with dysmenorrhea in each group were observed.Results： Comparison of the latent period： compared with（4.38 ± 1.06） min in group B,the latent period of rats in group C（9.67 ± 1.32） min,group D（11.78 ± 1.30） min and group E（15.00 ± 1.22） min obviously prolonged（all p 0.01）. Compared with group C, the latent period of group E obviously prolonged（p 0.01）. Compared with group D, the latent period of group E obviously prolonged（p 0.01）.Comparison of the writhing times： compared with（4.38 ± 1.06） in group B,the writhing times of rats in group C（9.67 ± 1.32）,group D（11.78 ± 1.30） and group E（15.00 ± 1.22） reduced（all p 0.01）. Compared with group C,the writhing times of rats in group D and group E reduced（both p 0.01）. Compared with group D, the writhing times in group E reduced（p 0.05）. Comparison of the total writhing score：compared with（4.38 ± 1.06） in group B,the total writhing score of rats in group C（9.67±1.32）,group D（11.78 ± 1.30） and group E（15.00 ± 1.22） decreased（all p 0.01）. Compared with group C,the total writhing score of rats in group D and group E decreased（both p 0.01）. Compared with group D,the total writhing score of rats in group E decreased（p 0.05）. Comparison of ET-1 level： compared with（4.80 ± 0.47） in group A,the ET-1 level in uterine tissues of rats in group B（7.57±0.69） significantly increased（P 0.01）. Compared with group B, the ET-1 level in uterine tissues of rats in group C（6.20 ±0.50）,group D（5.67 ±0.29） and group E（5.16±0.33） obviously decreased（all p 0.01）. Compared with group C, the ET-1 level in uterine tissues of rats in group D and group E obviously decreased（p 0.05, p 0.01）. Compared with group D, the ET-1 level in uterine tissues of rats in group Eobviously decreased（p 0.05）. Comparison of NO level： compared with（6.63±1.83） in group A, the NO level in uterine tissues of rats in group B（1.62 ±0.58） significantly decreased（p 0.01）. Compared with group B, the NO level in uterine tissues of rats in group C（3.60±0.59）,group D（4.77 ±0.67） and group E（5.99±0.63） obviously increased（all p 0.01）. Compared with group C,the NO level in uterine tissues of rats in group Dand group E obviously increased（p 0.05, p 0.01）. Compared with group D, the NO level in uterine tissues of rats in group E obviously increased（p 0.01）.Conclusion： The analgesic effect of mild moxibustion at different intervention times on cold-damp coagulation and stagnation type dysmenorrhea rats was different, which was the most significant in pre-instant moxibustion group. One of the mechanisms of action may be related with the adjustment of abnormal levels of ET-1 and NO.