Objective:This study aimed to screen for novel mutations in ACTL7A and expand the spectrum of known mutations responsible for recurrent fertilization failure.Methods:Whole-exome sequencing was performed on samples fro...Objective:This study aimed to screen for novel mutations in ACTL7A and expand the spectrum of known mutations responsible for recurrent fertilization failure.Methods:Whole-exome sequencing was performed on samples from couples who experienced recurrent assisted reproductive technology failure and visited the General Hospital of Ningxia Medical University.Western blotting and quantitative Real-time PCR were used to investigate the effects of the mutation on HEK293T cells.Results:Samples from 12 couples with total fertilization failure or poor fertilization(fertilization rate<20%)were subjected to whole-exome sequencing,and a novel homozygous protein-truncating mutation(c.1101dupC,p.S368Qfs*5)in ACTL7A was identified in a patient with recurrent poor fertilization.The mutant resulted in a truncated protein as well as decreased protein expression level in HEK293T cells.Conclusions:Our findings expand the mutational and phenotypic spectrum of ACTL7A,thus providing a potential diagnostic marker for fertilization failure due to male factors.展开更多
SAT-based bounded model checking （BMC） has been introduced as a complementary technique to BDD-based symbolic model checking in recent years, and a lot of successful work has been done in this direction. The approac...SAT-based bounded model checking （BMC） has been introduced as a complementary technique to BDD-based symbolic model checking in recent years, and a lot of successful work has been done in this direction. The approach was first introduced by A. Biere et al. in checking linear temporal logic （LTL） formulae and then also adapted to check formulae of the universal fragment of computation tree logic （ACTL） by W. Penczek et al. As the efficiency of model checking is still an important issue, we present an improved BMC approach for ACTL based on Penczek＇s method. We consider two aspects of the approach. One is reduction of the number of variables and transitions in the κ-model by distinguishing the temporal operator EX from the others. The other is simplification of the transformation of formulae by using uniform path encoding instead of a disjunction of all paths needed in the κ-model. With these improvements, for an ACTL formula, the length of the final encoding of the formula in the worst case is reduced. The improved approach is implemented in the tool BMV and is compared with the original one by applying both to two well known examples, mutual exclusion and dining philosophers. The comparison shoves the advantages of the improved approach with respect to the efficiency of model checking.展开更多
基金Foundation of Science and Technology Commission of Shanghai Municipality(17JC1400902)Merck Serono China Research Fund for Fertility Experts(MerckSerono CREATE20150170)
文摘Objective:This study aimed to screen for novel mutations in ACTL7A and expand the spectrum of known mutations responsible for recurrent fertilization failure.Methods:Whole-exome sequencing was performed on samples from couples who experienced recurrent assisted reproductive technology failure and visited the General Hospital of Ningxia Medical University.Western blotting and quantitative Real-time PCR were used to investigate the effects of the mutation on HEK293T cells.Results:Samples from 12 couples with total fertilization failure or poor fertilization(fertilization rate<20%)were subjected to whole-exome sequencing,and a novel homozygous protein-truncating mutation(c.1101dupC,p.S368Qfs*5)in ACTL7A was identified in a patient with recurrent poor fertilization.The mutant resulted in a truncated protein as well as decreased protein expression level in HEK293T cells.Conclusions:Our findings expand the mutational and phenotypic spectrum of ACTL7A,thus providing a potential diagnostic marker for fertilization failure due to male factors.
基金supported by the National Natural Science Foundation of China under Grants No.60573012 and No.60721061the National Basic Research 973 Program of China under Grant No.2002CB312200.
文摘SAT-based bounded model checking （BMC） has been introduced as a complementary technique to BDD-based symbolic model checking in recent years, and a lot of successful work has been done in this direction. The approach was first introduced by A. Biere et al. in checking linear temporal logic （LTL） formulae and then also adapted to check formulae of the universal fragment of computation tree logic （ACTL） by W. Penczek et al. As the efficiency of model checking is still an important issue, we present an improved BMC approach for ACTL based on Penczek＇s method. We consider two aspects of the approach. One is reduction of the number of variables and transitions in the κ-model by distinguishing the temporal operator EX from the others. The other is simplification of the transformation of formulae by using uniform path encoding instead of a disjunction of all paths needed in the κ-model. With these improvements, for an ACTL formula, the length of the final encoding of the formula in the worst case is reduced. The improved approach is implemented in the tool BMV and is compared with the original one by applying both to two well known examples, mutual exclusion and dining philosophers. The comparison shoves the advantages of the improved approach with respect to the efficiency of model checking.
