目的为经典型苯丙酮尿症（phenylketonuria，PKU）家系提供产前基因诊断。方法联合采用短串联重复片段（short tandem repeats，STR）多态连锁分析和聚合酶链反应技术扩增苯丙氨酸羟化酶基因突变热区外显子直接测序，对3个经典型PKU先...目的为经典型苯丙酮尿症（phenylketonuria，PKU）家系提供产前基因诊断。方法联合采用短串联重复片段（short tandem repeats，STR）多态连锁分析和聚合酶链反应技术扩增苯丙氨酸羟化酶基因突变热区外显子直接测序，对3个经典型PKU先证者及家系成员进行综合分析。结果家系1的STR连锁分析不能提供遗传信息，家系2、家系3可提供100％信息。突变检测共发现3个先证者均为苯丙氨酸羟化酶基因复合杂合突变，共检测到5种突变：Y166X、R243Q、R413P、EX6—96A〉G和IVS11-1G〉C，其中IVS11-1G〉C为国际首次报道的新突变。综合连锁分析和突变检测结果，确定家系1和家系2胎儿为PKU患者，家系3胎儿正常。结论联合连锁分析和苯丙氨酸羟化酶基因突变检测，可为PKU家系提供可靠的产前诊断服务。展开更多
High Peak-to-Average Power Ratio(PAPR)is one of the major drawbacks of Orthogonal Frequency DivisionMultiplexing(OFDM)systems.This paper presents the structures of the particular bit sequences leading to the maximumPA...High Peak-to-Average Power Ratio(PAPR)is one of the major drawbacks of Orthogonal Frequency DivisionMultiplexing(OFDM)systems.This paper presents the structures of the particular bit sequences leading to the maximumPAPR(PAPR_(max))in Carrier-Interferometry OFDM(CI/OFDM)and Pseudo Orthogonal Carrier-Interferometry OFDM(PO-CI/OFDM)systems for Binary Phase Shift Keying(BPSK)modulation.Furthermore,the simulation and analysisof PAPR_(max) and PAPR cumulative distribution in CI/OFDM and PO-CI/OFDM systems with 2048 sub-carriers are pre-sented in this paper.The results show that the PAPR of OFDM system with large number of sub-carriers reduced evidentlyvia CI approaches.展开更多
文摘目的为经典型苯丙酮尿症（phenylketonuria，PKU）家系提供产前基因诊断。方法联合采用短串联重复片段（short tandem repeats，STR）多态连锁分析和聚合酶链反应技术扩增苯丙氨酸羟化酶基因突变热区外显子直接测序，对3个经典型PKU先证者及家系成员进行综合分析。结果家系1的STR连锁分析不能提供遗传信息，家系2、家系3可提供100％信息。突变检测共发现3个先证者均为苯丙氨酸羟化酶基因复合杂合突变，共检测到5种突变：Y166X、R243Q、R413P、EX6—96A〉G和IVS11-1G〉C，其中IVS11-1G〉C为国际首次报道的新突变。综合连锁分析和突变检测结果，确定家系1和家系2胎儿为PKU患者，家系3胎儿正常。结论联合连锁分析和苯丙氨酸羟化酶基因突变检测，可为PKU家系提供可靠的产前诊断服务。
文摘High Peak-to-Average Power Ratio(PAPR)is one of the major drawbacks of Orthogonal Frequency DivisionMultiplexing(OFDM)systems.This paper presents the structures of the particular bit sequences leading to the maximumPAPR(PAPR_(max))in Carrier-Interferometry OFDM(CI/OFDM)and Pseudo Orthogonal Carrier-Interferometry OFDM(PO-CI/OFDM)systems for Binary Phase Shift Keying(BPSK)modulation.Furthermore,the simulation and analysisof PAPR_(max) and PAPR cumulative distribution in CI/OFDM and PO-CI/OFDM systems with 2048 sub-carriers are pre-sented in this paper.The results show that the PAPR of OFDM system with large number of sub-carriers reduced evidentlyvia CI approaches.
