The mutation rate is a pivotal biological characteristic,intricately governed by natural selection and historically garnering considerable attention.Recent advances in high-throughput sequencing and analytical methodo...The mutation rate is a pivotal biological characteristic,intricately governed by natural selection and historically garnering considerable attention.Recent advances in high-throughput sequencing and analytical methodologies have profoundly transformed our understanding in this domain,ushering in an unprecedented era of mutation rate research.This paper aims to provide a comprehensive overview of the key concepts and methodologies frequently employed in the study of mutation rates.It examines various types of mutations,explores the evolutionary dynamics and associated theories,and synthesizes both classical and contemporary hypotheses.Furthermore,this review comprehensively explores recent advances in understanding germline and somatic mutations in animals and offers an overview of experimental methodologies,mutational patterns,molecular mechanisms,and driving forces influencing variations in mutation rates across species and tissues.Finally,it proposes several potential research directions and pressing questions for future investigations.展开更多
During genotyping 150 microsatellites in a F1 family of common carp, six mutations were found at five microsatellite loci. The overall mutation rate of common carp microsatellites was 2.53×10-4 per locus per gene...During genotyping 150 microsatellites in a F1 family of common carp, six mutations were found at five microsatellite loci. The overall mutation rate of common carp microsatellites was 2.53×10-4 per locus per generation. At five loci, mutations increased the length of alleles by at least one repeat unit, suggesting mutations at microsatellite loci in common carp do not follow strict stepwise mutation model. The data on mutation rates and patterns can facilitate population genetics studies, and provide useful parameters for estimating a long-term effective population size of common carp.展开更多
[Objective] To study the effect of 60Co γ-rays irradiation on Botrytis cinerea biocontrol strains—Bacillus subtilis NCD-2. [Method] NCD-2 cells were irradiated at different doses of γ-rays from 100 to 2 000 Gy. The...[Objective] To study the effect of 60Co γ-rays irradiation on Botrytis cinerea biocontrol strains—Bacillus subtilis NCD-2. [Method] NCD-2 cells were irradiated at different doses of γ-rays from 100 to 2 000 Gy. The strains were screened by plate confrontation method and Oxford cup diffusion. [Result] The curves of the relationship of irradiation dose and mutation and lethal rate were obtained. The results showed that lethal rate increased with the increasing of irradiation dose. The lethal rate of 1 000 Gy irradiation dose reached 99.50%. The mutation rate increased below 500 Gy and decreased above 500 Gy. The highest mutation rate occurred when the irradiation dose was between 400 and 700 Gy, and the average mutation rate was above 15%. The optimal irradiation dose was 500 Gy, when the average mutation rate was 26.51% and lethal rate was 77.71%. [Conclusion] This study provided references for γ-rays irradiation mutation of Bacillus subtilis.展开更多
Objective The study is to identify the carrier rate of common deafness mutation in Chinese pregnant women via detecting deafness gene mutations with gene chip. Methods The pregnant women in obstetric clinic without he...Objective The study is to identify the carrier rate of common deafness mutation in Chinese pregnant women via detecting deafness gene mutations with gene chip. Methods The pregnant women in obstetric clinic without hearing impairment and hearing disorders family history were selected. The informed consent was signed. Peripheral blood was taken to extract genom- ic DNA. Application of genetic deafness gene chip for detecting 9 mutational hot spot of the most common 4 Chinese deafness genes, namely GJB2 （35delG, 176del16bp, 235delC, 299delAT）, GJB3 （C538T） ,SLC26A4 （ IVS72A〉G, A2168G） and mito- chondrial DNA 12S rRNA （A1555G, C1494T） . Further genetic testing were provided to the spouses and newborns of the screened carriers. Results Peripheral blood of 430 pregnant women were detected, detection of deafness gene mutation carri- ers in 24 cases（4.2%）, including 13 cases of the GJB2 heterozygous mutation, 3 cases of SLC26A4 heterozygous mutation, 1 cases of GJB3 heterozygous mutation, and 1 case of mitochondrial 12S rRNA mutation. 18 spouses and 17 newborns took further genetic tests, and 6 newborns inherited the mutation from their mother. Conclusion The common deafness genes muta- tion has a high carrier rate in pregnant women group, 235delC and IVS7-2A〉G heterozygous mutations are common.展开更多
Micro-tubers are important propagules in potato breeding and potato production, and they are also dormant and easily transported and therefore good targets for mutation induction in potato mutation breeding. A prerequ...Micro-tubers are important propagules in potato breeding and potato production, and they are also dormant and easily transported and therefore good targets for mutation induction in potato mutation breeding. A prerequisite for mutation breeding is to determine optimal mutation treatments. Therefore, radio-sensitivity tests of a tetraploid and a diploid potato to gamma irradiation were undertaken. Effects of different gamma sources on radio-activity were also studied. In vitro potato cuttings were gamma irradiated using a wide dose range (0, 3, 6, 9, 12, 15 and 20 Gy). The irradiated cuttings were then cultured to induce micro-tubers directly in vitro. Micro-tuber morphotypes were assessed after irradiation of cuttings using three gamma sources with emission activities of 1.8, 7.07 and 139 Gy/min. The diploid species (Solanum verrucosum) was more radio-sensitive than the tetraploid cultivar Desirée (Solanum tuberosum). Gamma dose rates had significant influences on subsequent micro-tuber production at various mutant generations. Effects included reductions in the number, size and weight of micro-tubers produced. Gamma dose was more lethal for the diploid potato genotype and micro-tubers produced were small compared to those produced by the tetraploid genotype after irradiation. Different treatments are recommended for diploid and tetraploid potato irradiation in producing large mutant micro-tuber populations. The mutant micro-tuber populations may then be screened for interesting mutations/trait for both genetics and plant breeding purposes.展开更多
要为明确高密度互通立交行驶环境下,主线车流量对出入口区段驾驶人精神负荷间的影响,在重庆市内环快速路高密度互通立交群进行自然驾驶实车试验,使用Physiolab生理检测仪连续采集驾驶人在行驶过程中的心电数据,用于统计各驾驶人的心率...要为明确高密度互通立交行驶环境下,主线车流量对出入口区段驾驶人精神负荷间的影响,在重庆市内环快速路高密度互通立交群进行自然驾驶实车试验,使用Physiolab生理检测仪连续采集驾驶人在行驶过程中的心电数据,用于统计各驾驶人的心率指标变化情况。本次试验基于主成分分析法选择心率变异率指标RMSSD(root mean square of successive differences)、LFnorm(low frequency norm)、HFnorm(high frequency norm)、LF(low frequency)/HF(high frequency)以及心率突变率指标HRMR(heat ratemutation rate)作为驾驶人精神负荷的评价指标,记为主成分F 1和主成分F 2,并建立评价模型。结果表明:驾驶人在小净距立交出入口区段行驶时,立交主线车流量的大小会影响驾驶人的精神负荷;当驾驶人驶入立交主线时,三次模型对入口段车流量与主成分F 2的拟合效果最好,呈开口向上的三次曲线,曲线谷值点出现在2级流量水平处,模型显著;当驾驶人驶出立交主线时,一次线性模型对出口段车流量与主成分F 1的拟合效果最好,模型显著。展开更多
A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats(Y-STRs)(DYS19,DYS390,DYS391,DYF399S1,DYF404S1,DYS439,DYS444,DYS449,DYS452,DYS456,DYS458,DYS460,DYS481,DYS508,DYS513,DYS5...A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats(Y-STRs)(DYS19,DYS390,DYS391,DYF399S1,DYF404S1,DYS439,DYS444,DYS449,DYS452,DYS456,DYS458,DYS460,DYS481,DYS508,DYS513,DYS516,DYS518,DYS543,DYS547,DYS549,DYS552,DYS557,DYS570,DYS576,DYS612,DYS622,DYS626,DYS627,DYS630,DYS635,and Y-GATA-A10)was developed for investigating the mutation rates of 31 highly mutated Y-STR genes in the Han population of northern China.The mutation rates of the 31 highly mutated Y-STRs were calculated using the father-son pair study method after typing 526 Northern Han father-son pairs with this system.Statistically,148 Y-STR mutations were found,with mutation rates ranging from 0(95%confidence interval[CI]0 to 9.0×10^(−3),DYS622)to 7.0×10^(−2)(95%CI 5.1×10^(−2)to 9.7×10^(−2),DYF399S1).Out of these,126 father-son pairs were successfully identified,with a distinction rate of 24.0%(95%CI 20.4%-27.9%).The ability of the 31 highly mutated Y-STRs to distinguish closely related males from the same paternal lineage in the Northern Han population is extremely valuable for criminal investigations and other purposes.展开更多
文摘The mutation rate is a pivotal biological characteristic,intricately governed by natural selection and historically garnering considerable attention.Recent advances in high-throughput sequencing and analytical methodologies have profoundly transformed our understanding in this domain,ushering in an unprecedented era of mutation rate research.This paper aims to provide a comprehensive overview of the key concepts and methodologies frequently employed in the study of mutation rates.It examines various types of mutations,explores the evolutionary dynamics and associated theories,and synthesizes both classical and contemporary hypotheses.Furthermore,this review comprehensively explores recent advances in understanding germline and somatic mutations in animals and offers an overview of experimental methodologies,mutational patterns,molecular mechanisms,and driving forces influencing variations in mutation rates across species and tissues.Finally,it proposes several potential research directions and pressing questions for future investigations.
文摘During genotyping 150 microsatellites in a F1 family of common carp, six mutations were found at five microsatellite loci. The overall mutation rate of common carp microsatellites was 2.53×10-4 per locus per generation. At five loci, mutations increased the length of alleles by at least one repeat unit, suggesting mutations at microsatellite loci in common carp do not follow strict stepwise mutation model. The data on mutation rates and patterns can facilitate population genetics studies, and provide useful parameters for estimating a long-term effective population size of common carp.
基金Supported by Being Science and Technology Institute "Bud Plan" Project(No.022)~~
文摘[Objective] To study the effect of 60Co γ-rays irradiation on Botrytis cinerea biocontrol strains—Bacillus subtilis NCD-2. [Method] NCD-2 cells were irradiated at different doses of γ-rays from 100 to 2 000 Gy. The strains were screened by plate confrontation method and Oxford cup diffusion. [Result] The curves of the relationship of irradiation dose and mutation and lethal rate were obtained. The results showed that lethal rate increased with the increasing of irradiation dose. The lethal rate of 1 000 Gy irradiation dose reached 99.50%. The mutation rate increased below 500 Gy and decreased above 500 Gy. The highest mutation rate occurred when the irradiation dose was between 400 and 700 Gy, and the average mutation rate was above 15%. The optimal irradiation dose was 500 Gy, when the average mutation rate was 26.51% and lethal rate was 77.71%. [Conclusion] This study provided references for γ-rays irradiation mutation of Bacillus subtilis.
文摘Objective The study is to identify the carrier rate of common deafness mutation in Chinese pregnant women via detecting deafness gene mutations with gene chip. Methods The pregnant women in obstetric clinic without hearing impairment and hearing disorders family history were selected. The informed consent was signed. Peripheral blood was taken to extract genom- ic DNA. Application of genetic deafness gene chip for detecting 9 mutational hot spot of the most common 4 Chinese deafness genes, namely GJB2 （35delG, 176del16bp, 235delC, 299delAT）, GJB3 （C538T） ,SLC26A4 （ IVS72A〉G, A2168G） and mito- chondrial DNA 12S rRNA （A1555G, C1494T） . Further genetic testing were provided to the spouses and newborns of the screened carriers. Results Peripheral blood of 430 pregnant women were detected, detection of deafness gene mutation carri- ers in 24 cases（4.2%）, including 13 cases of the GJB2 heterozygous mutation, 3 cases of SLC26A4 heterozygous mutation, 1 cases of GJB3 heterozygous mutation, and 1 case of mitochondrial 12S rRNA mutation. 18 spouses and 17 newborns took further genetic tests, and 6 newborns inherited the mutation from their mother. Conclusion The common deafness genes muta- tion has a high carrier rate in pregnant women group, 235delC and IVS7-2A〉G heterozygous mutations are common.
文摘Micro-tubers are important propagules in potato breeding and potato production, and they are also dormant and easily transported and therefore good targets for mutation induction in potato mutation breeding. A prerequisite for mutation breeding is to determine optimal mutation treatments. Therefore, radio-sensitivity tests of a tetraploid and a diploid potato to gamma irradiation were undertaken. Effects of different gamma sources on radio-activity were also studied. In vitro potato cuttings were gamma irradiated using a wide dose range (0, 3, 6, 9, 12, 15 and 20 Gy). The irradiated cuttings were then cultured to induce micro-tubers directly in vitro. Micro-tuber morphotypes were assessed after irradiation of cuttings using three gamma sources with emission activities of 1.8, 7.07 and 139 Gy/min. The diploid species (Solanum verrucosum) was more radio-sensitive than the tetraploid cultivar Desirée (Solanum tuberosum). Gamma dose rates had significant influences on subsequent micro-tuber production at various mutant generations. Effects included reductions in the number, size and weight of micro-tubers produced. Gamma dose was more lethal for the diploid potato genotype and micro-tubers produced were small compared to those produced by the tetraploid genotype after irradiation. Different treatments are recommended for diploid and tetraploid potato irradiation in producing large mutant micro-tuber populations. The mutant micro-tuber populations may then be screened for interesting mutations/trait for both genetics and plant breeding purposes.
文摘要为明确高密度互通立交行驶环境下,主线车流量对出入口区段驾驶人精神负荷间的影响,在重庆市内环快速路高密度互通立交群进行自然驾驶实车试验,使用Physiolab生理检测仪连续采集驾驶人在行驶过程中的心电数据,用于统计各驾驶人的心率指标变化情况。本次试验基于主成分分析法选择心率变异率指标RMSSD(root mean square of successive differences)、LFnorm(low frequency norm)、HFnorm(high frequency norm)、LF(low frequency)/HF(high frequency)以及心率突变率指标HRMR(heat ratemutation rate)作为驾驶人精神负荷的评价指标,记为主成分F 1和主成分F 2,并建立评价模型。结果表明:驾驶人在小净距立交出入口区段行驶时,立交主线车流量的大小会影响驾驶人的精神负荷;当驾驶人驶入立交主线时,三次模型对入口段车流量与主成分F 2的拟合效果最好,呈开口向上的三次曲线,曲线谷值点出现在2级流量水平处,模型显著;当驾驶人驶出立交主线时,一次线性模型对出口段车流量与主成分F 1的拟合效果最好,模型显著。
基金supported by the Fundamental Research Funds for the Central Universities.In addition,this study was also supported by opening research grants from Shanghai Key Lab of Forensic Medicine,Key Lab of Forensic Science,the Ministry of Justice,PR.China(Academy of Forensic Science)(No.KF202111).
文摘A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats(Y-STRs)(DYS19,DYS390,DYS391,DYF399S1,DYF404S1,DYS439,DYS444,DYS449,DYS452,DYS456,DYS458,DYS460,DYS481,DYS508,DYS513,DYS516,DYS518,DYS543,DYS547,DYS549,DYS552,DYS557,DYS570,DYS576,DYS612,DYS622,DYS626,DYS627,DYS630,DYS635,and Y-GATA-A10)was developed for investigating the mutation rates of 31 highly mutated Y-STR genes in the Han population of northern China.The mutation rates of the 31 highly mutated Y-STRs were calculated using the father-son pair study method after typing 526 Northern Han father-son pairs with this system.Statistically,148 Y-STR mutations were found,with mutation rates ranging from 0(95%confidence interval[CI]0 to 9.0×10^(−3),DYS622)to 7.0×10^(−2)(95%CI 5.1×10^(−2)to 9.7×10^(−2),DYF399S1).Out of these,126 father-son pairs were successfully identified,with a distinction rate of 24.0%(95%CI 20.4%-27.9%).The ability of the 31 highly mutated Y-STRs to distinguish closely related males from the same paternal lineage in the Northern Han population is extremely valuable for criminal investigations and other purposes.
