Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of...Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs.展开更多
Hybridization and polyploidy are key drivers of species diversity and genome variation in Lycoris,but their cytological and evolutionary consequences remain poorly understood.Here,we investigated chromosome numbers an...Hybridization and polyploidy are key drivers of species diversity and genome variation in Lycoris,but their cytological and evolutionary consequences remain poorly understood.Here,we investigated chromosome numbers and genome sizes in 64 accessions representing the morphological diversity across the genus.Chromosome numbers ranged from 12 to 33,with seven accessions newly identified,including L.chunxiaoensis(2n=33),two putative L.guangxiensis(2n=19),and fivenatural hybrids(2n=16,18,29,33).Genome sizes varied from 18.03 Gb(L.wulingensis)to 32.62 Gb(L.caldwellii).Although no significantcorrelationwas found between genome size and chromosome number across all accessions,a strong correlation within ploidy-level groups(i.e.,diploid or aneuploid)suggested roles for post-polyploid diploidization,aneuploidy,and dysploidy in speciation.Phylogenetic analyses based on chloroplast genomes and nuclear DNA sequences revealed significantdiscordance,indicating a complex reticulate evolution and historical hybridization,which may complicate morphological classification.Chromosome number aligned more closely with morphological groups,underscoring the necessity of integrating cytological,molecular,and morphological data for accurate taxonomy,particularly in largegenome taxa.Based on this evidence,we propose a putative speciation pathway involving multiple hybridization and polyploidization events,with allopolyploidy playing a predominant role.Furthermore,our results indicate that the species L.insularis and L.longifolia are geographic populations of L.sprengeri and L.aurea,respectively,and confirmedthe distribution of L.traubii and L.albiflora in China' Mainland.These findingsoffer new insights into the mechanisms underlying speciation,interspecificrelationships,and the evolutionary history of Lycoris.展开更多
Structural variation is an important source of genetic variation in wheat and have been important in the evolution of the wheat's genome.Few studies have examined the relationship between structural variations and...Structural variation is an important source of genetic variation in wheat and have been important in the evolution of the wheat's genome.Few studies have examined the relationship between structural variations and agronomy and drought tolerance.The present study identified structural chromosome variations(SCVs)in a doubled haploid(DH)population and backcross introgression lines(BC5F3)derived from Jinmai 47 and Jinmai 84 using fluorescence in situ hybridization(FISH).There are one simple translocation,10 present/absent variations(PAVs),and one copy number variation(CNV)between Jinmai 47 and Jinmai 84,which distributed in 10 chromosomes.Eight SCVs were associated with 15 agronomic traits.A PAV recombination occurred on chromosome 2A,which was associated with grain number per spike(GNS).The 1BL/1RS translocation and PAV.2D were associated with significant reductions in plant height,deriving from the effects on LI2-LI4,LI2-LI4 and UI,respectively respectively.PAV.2D was also contributed to an increase of 3.13%for GNS,1BL/1RS significantly increased spikelet number,grain length(GL),and grain thickness(GT).The effect of PAV.4A.1 on GL,PAV.6A on spike length(SL)and thousand-grain weight(TGW),PAV.6B on SL,GT and TGW were identified and verified.PAVs on chromosomes 2A,6A,1D,2D,and a CNV on chromosome 4B were associated with the drought tolerance coefficients.Additive and interaction effects among SCVs were observed.Many previously cloned key genes and yield-related QTL were found in polymorphic regions of PAV.2B,PAV.2D,and CNV.4B.Altogether,this study confirmed the genetic effect of SCVs on agronomy and drought tolerance,and identification of these SCVs will facilitate genetic improvement of wheat through marker-assisted selection.展开更多
[Objective]The aim was to study the effect of herbicide on the growth of early seedlings of rye（Secale cereale）.[Method]Effect of two kinds of herbicide（Atrazine and APM）on seedling growth of rye was investigated ...[Objective]The aim was to study the effect of herbicide on the growth of early seedlings of rye（Secale cereale）.[Method]Effect of two kinds of herbicide（Atrazine and APM）on seedling growth of rye was investigated at the physiological,biochemical and cellular level.[Result]The Atrazin significantly decreased the contents of chlorophyll a,b and soluble proteins.Rye seeds were treated with 0.01-1 mg/L Atrazine for 16 h,the contents of chlorophyll a and b decreased from 1.26（a）,0.49（b）mg/g FW（control）to 1.15（a）,0.46（b）mg/g FW（0.1 mg/L）and 0.81（a）,0.33（b）mg/g FW（1.0 mg/L）.The content of soluble protein decreased with the increasing concentration of Atrazin.Atrazin had no significant influence on the cell division and chromosome structure variation.The contents of chlorophyll a,b and soluble proteins had no significantly change under the treatment of APM,but the number of chromosome structure variation such as chromosome bridge,multipolar division cells,lagging chromosome and unequal division cells increased significantly.[Conclusion]The critical concentration of Atrazine was 0.1-1.0 mg/L and 4 mg/L of APM in rye.展开更多
The wild relatives of wheat （Triticum aestivum L.） contain tremendous amounts of potentially useful genes and represent a promising source of genetic diversity for wheat improvement （Bommineni and Jauhar, 1997）. T...The wild relatives of wheat （Triticum aestivum L.） contain tremendous amounts of potentially useful genes and represent a promising source of genetic diversity for wheat improvement （Bommineni and Jauhar, 1997）. Thinopyrum ponticum （Popd.） Barkworth and D. R. Dewey [syn. Agropyron elongatum （Host） P. Beauv., Elytrigia pontica （Podp.） Holub, Lophopy- rum ponticum （Podp.） A. L6ve] （2n = 10x = 70）, has high crossability with various Triticum species. Numerous studies have shown that Th. ponticum carries many potentially valu- able resistance genes against biotic and abiotic stresses （Shannon, 1978; Cox, 1991; Zheng et al., 2014a,b）. Transferring the useful genes from Th. ponticum to common wheat through chromosome engineering had been a successful way to enhance the resistance of wheat to pests and diseases （Sharma et al., 1989; McIntosh, 1991）.展开更多
基金Dongguan City Social Development Project(Project number:20161081101023)。
文摘Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs.
基金supported by the ScientificFund of Nanjing Botanical Garden Men.Sun Yat-Sen(JSPKLB202519)Jiangsu Provincial Crop Germplasm Resource Bank(Lycoris)(JS-ZW-K04)Forestry Science and Technology Popularization Demonstration Project of the Central Finance[Su(2024)TG06].
文摘Hybridization and polyploidy are key drivers of species diversity and genome variation in Lycoris,but their cytological and evolutionary consequences remain poorly understood.Here,we investigated chromosome numbers and genome sizes in 64 accessions representing the morphological diversity across the genus.Chromosome numbers ranged from 12 to 33,with seven accessions newly identified,including L.chunxiaoensis(2n=33),two putative L.guangxiensis(2n=19),and fivenatural hybrids(2n=16,18,29,33).Genome sizes varied from 18.03 Gb(L.wulingensis)to 32.62 Gb(L.caldwellii).Although no significantcorrelationwas found between genome size and chromosome number across all accessions,a strong correlation within ploidy-level groups(i.e.,diploid or aneuploid)suggested roles for post-polyploid diploidization,aneuploidy,and dysploidy in speciation.Phylogenetic analyses based on chloroplast genomes and nuclear DNA sequences revealed significantdiscordance,indicating a complex reticulate evolution and historical hybridization,which may complicate morphological classification.Chromosome number aligned more closely with morphological groups,underscoring the necessity of integrating cytological,molecular,and morphological data for accurate taxonomy,particularly in largegenome taxa.Based on this evidence,we propose a putative speciation pathway involving multiple hybridization and polyploidization events,with allopolyploidy playing a predominant role.Furthermore,our results indicate that the species L.insularis and L.longifolia are geographic populations of L.sprengeri and L.aurea,respectively,and confirmedthe distribution of L.traubii and L.albiflora in China' Mainland.These findingsoffer new insights into the mechanisms underlying speciation,interspecificrelationships,and the evolutionary history of Lycoris.
基金supported by the Science and Technology Major Project of Shanxi Province,China(202201140601025-2,202302140601001)the Agricultural Science Research Project of Shanxi Agricultural University,China(2023BQ108)+1 种基金the Senior Foreign Experts Introducing Project,China(G202204011L)the Science and Technology Innovation Young Talent Team of Shanxi Province,China(202204051001019)。
文摘Structural variation is an important source of genetic variation in wheat and have been important in the evolution of the wheat's genome.Few studies have examined the relationship between structural variations and agronomy and drought tolerance.The present study identified structural chromosome variations(SCVs)in a doubled haploid(DH)population and backcross introgression lines(BC5F3)derived from Jinmai 47 and Jinmai 84 using fluorescence in situ hybridization(FISH).There are one simple translocation,10 present/absent variations(PAVs),and one copy number variation(CNV)between Jinmai 47 and Jinmai 84,which distributed in 10 chromosomes.Eight SCVs were associated with 15 agronomic traits.A PAV recombination occurred on chromosome 2A,which was associated with grain number per spike(GNS).The 1BL/1RS translocation and PAV.2D were associated with significant reductions in plant height,deriving from the effects on LI2-LI4,LI2-LI4 and UI,respectively respectively.PAV.2D was also contributed to an increase of 3.13%for GNS,1BL/1RS significantly increased spikelet number,grain length(GL),and grain thickness(GT).The effect of PAV.4A.1 on GL,PAV.6A on spike length(SL)and thousand-grain weight(TGW),PAV.6B on SL,GT and TGW were identified and verified.PAVs on chromosomes 2A,6A,1D,2D,and a CNV on chromosome 4B were associated with the drought tolerance coefficients.Additive and interaction effects among SCVs were observed.Many previously cloned key genes and yield-related QTL were found in polymorphic regions of PAV.2B,PAV.2D,and CNV.4B.Altogether,this study confirmed the genetic effect of SCVs on agronomy and drought tolerance,and identification of these SCVs will facilitate genetic improvement of wheat through marker-assisted selection.
基金Supported by Key Project for Science Researches of Ministry of Education(02010)~~
文摘[Objective]The aim was to study the effect of herbicide on the growth of early seedlings of rye（Secale cereale）.[Method]Effect of two kinds of herbicide（Atrazine and APM）on seedling growth of rye was investigated at the physiological,biochemical and cellular level.[Result]The Atrazin significantly decreased the contents of chlorophyll a,b and soluble proteins.Rye seeds were treated with 0.01-1 mg/L Atrazine for 16 h,the contents of chlorophyll a and b decreased from 1.26（a）,0.49（b）mg/g FW（control）to 1.15（a）,0.46（b）mg/g FW（0.1 mg/L）and 0.81（a）,0.33（b）mg/g FW（1.0 mg/L）.The content of soluble protein decreased with the increasing concentration of Atrazin.Atrazin had no significant influence on the cell division and chromosome structure variation.The contents of chlorophyll a,b and soluble proteins had no significantly change under the treatment of APM,but the number of chromosome structure variation such as chromosome bridge,multipolar division cells,lagging chromosome and unequal division cells increased significantly.[Conclusion]The critical concentration of Atrazine was 0.1-1.0 mg/L and 4 mg/L of APM in rye.
基金supported by the grants from the National High-Tech Research and Development Program of China (No. 2011AA1001)the National Key Technology R&D Program of China (No. 2013BAD05B01)the National Natural Science Foundation of China (No. 31171539)
文摘The wild relatives of wheat （Triticum aestivum L.） contain tremendous amounts of potentially useful genes and represent a promising source of genetic diversity for wheat improvement （Bommineni and Jauhar, 1997）. Thinopyrum ponticum （Popd.） Barkworth and D. R. Dewey [syn. Agropyron elongatum （Host） P. Beauv., Elytrigia pontica （Podp.） Holub, Lophopy- rum ponticum （Podp.） A. L6ve] （2n = 10x = 70）, has high crossability with various Triticum species. Numerous studies have shown that Th. ponticum carries many potentially valu- able resistance genes against biotic and abiotic stresses （Shannon, 1978; Cox, 1991; Zheng et al., 2014a,b）. Transferring the useful genes from Th. ponticum to common wheat through chromosome engineering had been a successful way to enhance the resistance of wheat to pests and diseases （Sharma et al., 1989; McIntosh, 1991）.
