Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on pren...Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α-and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42(–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas.展开更多
Until now the genus Amana(Liliaceae),known as ’East Asian tulips’,has contained just seven species.In this study,a phylogenomic and integrative taxonomic approach was used to reveal two new species,Amana nanyueensis...Until now the genus Amana(Liliaceae),known as ’East Asian tulips’,has contained just seven species.In this study,a phylogenomic and integrative taxonomic approach was used to reveal two new species,Amana nanyueensis from Central China and A.tianmuensis from East China.A.nanyueensis resembles Amana edulis in possessing a densely villous-woolly bulb tunic and two opposite bracts,but differs in its leaves and anthers.Amana tianmuensis resembles Amana erythronioides in possessing three verticillate bracts and yellow anthers,but differs in aspects of its leaves and bulbs.These four species are clearly separated from each other in principal components analysis based on morphology.Phylogenomic analyses based on plastid CDS further support the species delimitation of A.nanyueensis and A.tianmuensis and suggests they are closely related to A.edulis.Cytological analysis shows that A.nanyueensis and A tianmuensis are both diploid(2n=2x=24),different from A edulis,which is either diploid(northern populations) or tetraploid(southern populations,2n=4x=48).The pollen morphology of A.nanyueensis is similar to other Amana species(single-groove germination aperture),but A.tianmuensis is quite different because of the presence of a sulcus membrane,which creates the illusion of double grooves.Ecological niche modelling also revealed a niche differentiation between A.edulis,A.nanyueensis and A.tianmuensis.展开更多
基金supported by Major Science and Technology Program of Hainan Province(No.ZDKJ2017007)International Science&Technology Cooperation Program of China(No.2014DFA30180)+2 种基金Hainan Provincial Natural Science Foundation of China(No.2019CXTD408)National Natural Science Foundation of China(No.81060016,31140021,81260032,81460034,81660433)Hainan Provincial Science and Technology Department(No.YJJC20120007,2012-GH009,ZDZX2013003 and KJHZ2014-11).
文摘Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α-and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42(–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas.
基金supported by the National Natural Science Foundation of China (Grant No.31970225)the Zhejiang Provincial Natural Science Foundation (Grant No.LY19C030007)theNSFC-NSF Dimensions of Biodiversity Program (Grant No.31461123001)。
文摘Until now the genus Amana(Liliaceae),known as ’East Asian tulips’,has contained just seven species.In this study,a phylogenomic and integrative taxonomic approach was used to reveal two new species,Amana nanyueensis from Central China and A.tianmuensis from East China.A.nanyueensis resembles Amana edulis in possessing a densely villous-woolly bulb tunic and two opposite bracts,but differs in its leaves and anthers.Amana tianmuensis resembles Amana erythronioides in possessing three verticillate bracts and yellow anthers,but differs in aspects of its leaves and bulbs.These four species are clearly separated from each other in principal components analysis based on morphology.Phylogenomic analyses based on plastid CDS further support the species delimitation of A.nanyueensis and A.tianmuensis and suggests they are closely related to A.edulis.Cytological analysis shows that A.nanyueensis and A tianmuensis are both diploid(2n=2x=24),different from A edulis,which is either diploid(northern populations) or tetraploid(southern populations,2n=4x=48).The pollen morphology of A.nanyueensis is similar to other Amana species(single-groove germination aperture),but A.tianmuensis is quite different because of the presence of a sulcus membrane,which creates the illusion of double grooves.Ecological niche modelling also revealed a niche differentiation between A.edulis,A.nanyueensis and A.tianmuensis.
