The objective of this work was to evaluate if cryostorage of Phaseolus vulgaris L. seeds induced variations in regenerated plants at the phenotypic and molecular levels. A series of agricultural traits was measured on...The objective of this work was to evaluate if cryostorage of Phaseolus vulgaris L. seeds induced variations in regenerated plants at the phenotypic and molecular levels. A series of agricultural traits was measured on plants grown from control, non-cryopreserved and cryopreserved seeds, and the genetic stability of plants of the second generation was analysed at selected microsatellite loci. The phenotype of the second generation plants was evaluated as well. No statistically significant phenotypic differences were observed for the parameters measured, neither in the first nor in the second generations. Averaging both treatments, about 76% of the seeds had germinated 10 days after sowing. At harvest we recorded plants with about 73 cm in height, 13 stem internodes, 25 fruits, 103 grains and 4 grains per fruit. One hundred seeds weighted about 26 g. The genetic analyses performed on the second generation plants using six nuclear Simple Sequences Repeats (SSR) markers revealed no changes in microsatellite length between control and cryopreserved samples, implying that there was no effect of seed liquid nitrogen exposure on genome integrity. The phenotypic and molecular results reported here confirm that cryostorage is an efficient and reliable technique to conserve P. vulgaris seeds and regenerate true-to-type plants.展开更多
Eucalyptus has become an important genus in China because it displays adaptability to a wide range of site conditions and produces pulp wood and veneer on short rotations. The aim of this study was to estimate genetic...Eucalyptus has become an important genus in China because it displays adaptability to a wide range of site conditions and produces pulp wood and veneer on short rotations. The aim of this study was to estimate genetic parameters and relationships and consider impli- cations for development of clonal forestry. We assessed growth traits, stem-branch characteristics, crown diameter and height of fresh branch for 20 Eucalyptus hybrid clones in China measured at the age of 44 months. Analysis of variance showed that there were significant differences in growth traits, height of fresh branch and stem straightness among clones. Significant differences in height, volume, crown diameter, height of fresh branch and branch size among replicates were also recorded. Coefficients of vari- ation ranged from 9.84 to 28.54 % for growth traits, 12.03 to 17.25 % for stem-branch characteristics, 18.26 % for crown diameter and 11.73 % for height of fresh branch. Estimates of repeatabilities for height, diameter at breastheight over bark, volume, crown diameter, height of fresh branch, stem straightness and branch size at clone mean level were 0.86, 0.80, 0.80, 0.54, 0.85, 0.77 and 0.44 respectively. Diameter at breast height over bark and height had strongly positive phenotypic and genotypic correlations with volume, ranging from 0.96 to 1.00. The positive genotypic and phenotypic correlations between growth traits and other studied traits suggested that fast growing clones always had bigger crown diameter, higher height of fresh branch, straighter stems and relatively smaller branches.展开更多
The investigation was carried out in focusing the genetic variability for different traits of wheat influenced by heat tolerance mechanism to find out relationships among phenological, physiological and yield contribu...The investigation was carried out in focusing the genetic variability for different traits of wheat influenced by heat tolerance mechanism to find out relationships among phenological, physiological and yield contributing traits. Spring wheat cultivar of 25 genotypes were selected and cultivated under late sowing condition at the Regional Wheat Research Institute, Shympur, Rajshahi, Bangladesh from December, 2016 to April, 2017. Significant variability among the genotypes exposed for different traits related to heat tolerance. Results showed that the genotypes G24, G10, G01, G13, G16, G25 and G14 </span><span style="font-family:Verdana;">ranked as better category considering maximum number of traits in mean</span><span style="font-family:Verdana;"> performance indicating their tolerance to heat stress under late sowing condition. Phenotypic variances (<i>σ<sub>g</sub><sup style="margin-left:-6px;">2</sup></i>) of all traits were greater than those of genotypic variances (<i>σ<sub>g</sub><sup style="margin-left:-6px;">2</sup></i>). The same trends were also found in their co-efficient of variances. The phenotypic co-efficient of variances (PCV) of all traits were greater compare to those of genotypic co-efficient of variances (GCV) and their values were closer to each other. The heading days (HD), canopy temperature at vegetative stage (CT</span><sub><span style="font-family:Verdana;">vg</span></sub><span style="font-family:Verdana;">), canopy temperature at grain filling stage </span><span><span style="font-family:Verdana;">(CT</span><sub><span style="font-family:Verdana;">gf</span></sub><span style="font-family:Verdana;">), biomass, plant height (PH), spike/m</span><sup><span style="font-family:Verdana;">2</span></sup><span style="font-family:Verdana;"> (SPM), spikelet/spike (SPS), </span></span><span style="font-family:Verdana;">grain/</span></span><span style="font-family:""> </span><span style="font-family:Verdana;">spike (GPS), thousand grain weight (TGW) and yield exhibited higher heritability (<i></span><span style="font-family:Verdana;">h<sub>b</sub><sup style="margin-left:-6px;">2</sup></span><span style="font-family:""><span style="font-family:Verdana;"></i>) estimated under irrigated late sowing (ILS) condition. Under the same ILS condition SPAD, SPM, SPS, GPS, TGW and yield showed moderate to high genetic advance (GA) obtained through computing their mean percentage (%) and the rest traits HD, maturity days (MD), CT</span><sub><span style="font-family:Verdana;">vg</span></sub><span style="font-family:Verdana;">, CT</span><sub><span style="font-family:Verdana;">gf</span></sub><span style="font-family:Verdana;">, biomass, PH and harvest index (HI) exposed smaller genetic advance (% mean). The co-efficient of variation (CV%) of all attributes in all genotypes were significantly lower (1.36</span></span><span style="font-family:""> </span><span style="font-family:""><span style="font-family:Verdana;">- 6.96). Both heritability and genetic advance were found lower for MD, SPAD and HI indicated their non additive genetic effects for </span><span style="font-family:Verdana;">which these traits might not be recommended for selection. However, </span><span style="font-family:Verdana;">spike/m</span><sup><span style="font-family:Verdana;">2</span></sup><span style="font-family:Verdana;">, </span><span style="font-family:Verdana;">spikelet/spike, grain/spike, thousand grain weight and yield belonged to </span><span style="font-family:Verdana;">higher heritability and high to moderate genetic advance in mean percentage (%) along with wide genetic variation and lower environmental influence in heat stress situation indicated the most likely heritability due to the effects of additive genes that might be suggested as effective process of selection for these traits in heat stress condition.展开更多
The study investigated genotypic and phenotypic co-efficients of variation, heritability, genetic advance at 5% selection intensity and in percentage of population mean of nine characters (plant height, leaf number, l...The study investigated genotypic and phenotypic co-efficients of variation, heritability, genetic advance at 5% selection intensity and in percentage of population mean of nine characters (plant height, leaf number, length and width of leaf lamina, number and weight of cormels per plant, weight of corm per plant, dry matter percentage in the tubers and tuber yield per from 14 cultivars of taro [Colocasia esculenta (L.) Schott]). Results indicated highest genotypic co-efficient of variation for dry matter percentage (47.91), which was 95.78% of the phenotypic co-efficient of variation, whereas tuber yield per plant showed the widest range (819.37). Number of cormels per plant and dry matter percentage ehibited considerably higher heritability (84.90% and 91.70%, respectively) and genetic advance (81.19 and 79.00, respectively), indicating the potentiality of selection for improvement of such characters. These two characters were found to be positively correlated to tuber yield per plant. Path analysis revealed that weight of cormels per plant possessed the highest direct effect on tuber yield, indicating the importance of selection based on this character to increase tuber yield per plant.展开更多
Twelve (12) Acacia senegal provenances were evaluated at the Rubber Research Institute of Nigeria, Gum Arabic Sub-Station Gashua, Yobe state. Gum yield and some morphological data were collect in three years to estima...Twelve (12) Acacia senegal provenances were evaluated at the Rubber Research Institute of Nigeria, Gum Arabic Sub-Station Gashua, Yobe state. Gum yield and some morphological data were collect in three years to estimate mean effects, genetic variability, heritability and genetic advance in Acacia senegal provenances. The analysis of variance revealed highly significant difference for all traits. Genetic component analysis showed that both genotypic coefficient of variation (GCV) and phenotypic coefficient of variation (PVC) were high for all the traits except bark thickness. PCV was higher in proportion than GCV with respect to all the traits. Gum yield gave the highest relative difference (RD) over other traits. Heritability estimates were high for bark thickness (77.36) and stem diameter (61.75). Expected genetic advance was high in number of tree incision (1.29), stem diameter (1.54) and yield in kg/ha (22.31). This study indicated that there was sufficient genetic variability in Acacia senegal provenances that could be used as a base for improvement of yield and other component attributes of this species through direct selection and hybridization.展开更多
The Food and Agriculture Organization has highlighted pineapple as one of the most important tropical fruits. Since classical pineapple breeding is difficult, biotechnology has emerged as an attractive instrument. We ...The Food and Agriculture Organization has highlighted pineapple as one of the most important tropical fruits. Since classical pineapple breeding is difficult, biotechnology has emerged as an attractive instrument. We obtained two new pineapple somaclonal variants derived from in vitro culture of cv. Red Spanish Pinar: P3R5 and Dwarf. The AFLP analysis revealed an existing genetic distance. So far 44 phenotype indicators selected due to their relation to a wide range of important agricultural, morphological and physiological processes have been evaluated. P3R5 differed from the donor in 19 variables (19/44;43.18%), while Dwarf varied in 31 indicators (31/44;70.45%). The number of shoots was significantly different among the three plant materials. Dwarf showed two shoots per plant while P3R5 and the donor did not form any shoots. We also observed that water use efficiency, chlorophyll b concentration, total chlorophyll concentration, transpiration rate, chlorophyll a concentration, thickness of leaf photosynthetic parenchyma, fruit mass with crown, content of free phenolics and superoxide dismutase specific activity were also very different among the three plant materials. The Euclidean distances of each somaclonal variant to the donor plant material taking into consideration the genotype (AFLP) and the phenotype evaluations were also calculated. Regarding the genotype information, P3R5 is separated from cv. Red Spanish Pinar by 2.83 units of Euclidean distance, and Dwarf by 3.00 units. However, the phenotype indicators revealed higher differences: 3.74 in P3R5 and 4.71 in Dwarf. To our knowledge, this is the first report of a comprehensive analysis of pineapple somaclonal variants.展开更多
目的总结Gitelman综合征患儿的临床及基因特点,以提高临床医生对儿童Gitelman综合征的认识和诊治。方法回顾性分析2013年7月~2020年12月首都医科大学附属北京儿童医院收治的有基因结果的32例Gitelman综合征患儿的临床资料,包括发病及确...目的总结Gitelman综合征患儿的临床及基因特点,以提高临床医生对儿童Gitelman综合征的认识和诊治。方法回顾性分析2013年7月~2020年12月首都医科大学附属北京儿童医院收治的有基因结果的32例Gitelman综合征患儿的临床资料,包括发病及确诊年龄、临床表现、实验室检查及基因变异情况。结果32例Gitelman综合征患儿中,男性23例,女性9例;发病年龄为5.000(3.043,7.628)岁,确诊年龄为8.776±3.528岁;确诊时身高标准差值(H-SDS)为-1.460±1.307SD;临床表现依次是肌肉无力46.9%(15/32),身材矮小37.5%(12/32),手足搐搦25.0%(8/32),多饮多尿21.9%(7/32),呕吐21.9%(7/32),腹痛和肢体麻木均为6.3%(2/32),恶心、四肢酸痛为3.1%(1/32)。实验室检查:100%患儿血钾降低,62.5%(20/32)血镁降低。血钾最低值为2.208±0.432mmol/L,血镁最低值为0.667±0.121mmol/L。血浆肾素(卧位)为12.860±7.239ng/(ml·h),血管紧张素(卧位)为536.500(235.200,700.100)pg/ml,醛固酮(卧位)为21.510(17.705,148.820)mg/L。24h尿钾为2.580±0.800mmol/(kg·24h),24h尿钙为0.020(0.010,0.055)mmol/(kg·24h),其中,血氯及24h尿钙在男女患儿中比较,差异有统计学意义(P分别为0.048和0.035)。32例患儿共检出36种不同SLC12A3变异,仅1例患儿为纯合,27例为复合杂合变异;3例患儿仅发现1个变异,1例患儿为多杂合变异。33.3%为新发变异(12/36),无义变异1例,剪切变异8种,移码变异7种,错义变异20种,最常见变异位点为p.D486N,见于31%(10/32)的患儿。所发现的变异形式在发病年龄、血电解质及肾素和血管紧张素水平比较,差异均无统计学意义,24h尿钾在剪切变异组较移码变异或无义变异组更高(2.338±0.718 vs 3.227±0.477,P=0.019)。结论Gitelman综合征发病年龄可在婴幼儿期,身材矮小是儿童Gitelman综合征的主要临床表现之一,p.D486N是最常见的变异位点。Gitelman综合征患者的基因变异和临床表现异质性很大,24h尿钾在移码或无义变异组与剪切变异组比较,差异有统计学意义。展开更多
The lack of suitable varieties is a constraint to okra production in West Africa. This study aimed to assess the magnitude of morphological diversity of 260 accessions of okra (Abelmoschus esculentus L. Moench) in Mal...The lack of suitable varieties is a constraint to okra production in West Africa. This study aimed to assess the magnitude of morphological diversity of 260 accessions of okra (Abelmoschus esculentus L. Moench) in Mali. A total of 25 qualitative and quantitative traits, including plant height, number of branches, pod length, and pod yield, were measured under field conditions. Significant variation was observed for all agronomic traits (p 2 < 60), suggesting that these traits are largely controlled by genetic factors. The pod yield was affected by the incidence of diseases. Principal component analysis (PCA) revealed four distinct clusters, indicating a broad genetic base. These findings provide valuable insights for breeding programs targeting improved okra varieties with enhanced yield and resilience, contributing to sustainable agricultural development in Mali.展开更多
文摘The objective of this work was to evaluate if cryostorage of Phaseolus vulgaris L. seeds induced variations in regenerated plants at the phenotypic and molecular levels. A series of agricultural traits was measured on plants grown from control, non-cryopreserved and cryopreserved seeds, and the genetic stability of plants of the second generation was analysed at selected microsatellite loci. The phenotype of the second generation plants was evaluated as well. No statistically significant phenotypic differences were observed for the parameters measured, neither in the first nor in the second generations. Averaging both treatments, about 76% of the seeds had germinated 10 days after sowing. At harvest we recorded plants with about 73 cm in height, 13 stem internodes, 25 fruits, 103 grains and 4 grains per fruit. One hundred seeds weighted about 26 g. The genetic analyses performed on the second generation plants using six nuclear Simple Sequences Repeats (SSR) markers revealed no changes in microsatellite length between control and cryopreserved samples, implying that there was no effect of seed liquid nitrogen exposure on genome integrity. The phenotypic and molecular results reported here confirm that cryostorage is an efficient and reliable technique to conserve P. vulgaris seeds and regenerate true-to-type plants.
基金finically supported by the National Twelfth Five-Year Science and Technology Plan ‘‘Breeding of High yield and High Resistance New Species of Eucalyptus’’(2012BAD01B0401),‘‘Genetic Research of Pulp Yield and Veneer of Eucalyptus urophylla Hybrid Clones’’(RITFYWZX201304)
文摘Eucalyptus has become an important genus in China because it displays adaptability to a wide range of site conditions and produces pulp wood and veneer on short rotations. The aim of this study was to estimate genetic parameters and relationships and consider impli- cations for development of clonal forestry. We assessed growth traits, stem-branch characteristics, crown diameter and height of fresh branch for 20 Eucalyptus hybrid clones in China measured at the age of 44 months. Analysis of variance showed that there were significant differences in growth traits, height of fresh branch and stem straightness among clones. Significant differences in height, volume, crown diameter, height of fresh branch and branch size among replicates were also recorded. Coefficients of vari- ation ranged from 9.84 to 28.54 % for growth traits, 12.03 to 17.25 % for stem-branch characteristics, 18.26 % for crown diameter and 11.73 % for height of fresh branch. Estimates of repeatabilities for height, diameter at breastheight over bark, volume, crown diameter, height of fresh branch, stem straightness and branch size at clone mean level were 0.86, 0.80, 0.80, 0.54, 0.85, 0.77 and 0.44 respectively. Diameter at breast height over bark and height had strongly positive phenotypic and genotypic correlations with volume, ranging from 0.96 to 1.00. The positive genotypic and phenotypic correlations between growth traits and other studied traits suggested that fast growing clones always had bigger crown diameter, higher height of fresh branch, straighter stems and relatively smaller branches.
文摘The investigation was carried out in focusing the genetic variability for different traits of wheat influenced by heat tolerance mechanism to find out relationships among phenological, physiological and yield contributing traits. Spring wheat cultivar of 25 genotypes were selected and cultivated under late sowing condition at the Regional Wheat Research Institute, Shympur, Rajshahi, Bangladesh from December, 2016 to April, 2017. Significant variability among the genotypes exposed for different traits related to heat tolerance. Results showed that the genotypes G24, G10, G01, G13, G16, G25 and G14 </span><span style="font-family:Verdana;">ranked as better category considering maximum number of traits in mean</span><span style="font-family:Verdana;"> performance indicating their tolerance to heat stress under late sowing condition. Phenotypic variances (<i>σ<sub>g</sub><sup style="margin-left:-6px;">2</sup></i>) of all traits were greater than those of genotypic variances (<i>σ<sub>g</sub><sup style="margin-left:-6px;">2</sup></i>). The same trends were also found in their co-efficient of variances. The phenotypic co-efficient of variances (PCV) of all traits were greater compare to those of genotypic co-efficient of variances (GCV) and their values were closer to each other. The heading days (HD), canopy temperature at vegetative stage (CT</span><sub><span style="font-family:Verdana;">vg</span></sub><span style="font-family:Verdana;">), canopy temperature at grain filling stage </span><span><span style="font-family:Verdana;">(CT</span><sub><span style="font-family:Verdana;">gf</span></sub><span style="font-family:Verdana;">), biomass, plant height (PH), spike/m</span><sup><span style="font-family:Verdana;">2</span></sup><span style="font-family:Verdana;"> (SPM), spikelet/spike (SPS), </span></span><span style="font-family:Verdana;">grain/</span></span><span style="font-family:""> </span><span style="font-family:Verdana;">spike (GPS), thousand grain weight (TGW) and yield exhibited higher heritability (<i></span><span style="font-family:Verdana;">h<sub>b</sub><sup style="margin-left:-6px;">2</sup></span><span style="font-family:""><span style="font-family:Verdana;"></i>) estimated under irrigated late sowing (ILS) condition. Under the same ILS condition SPAD, SPM, SPS, GPS, TGW and yield showed moderate to high genetic advance (GA) obtained through computing their mean percentage (%) and the rest traits HD, maturity days (MD), CT</span><sub><span style="font-family:Verdana;">vg</span></sub><span style="font-family:Verdana;">, CT</span><sub><span style="font-family:Verdana;">gf</span></sub><span style="font-family:Verdana;">, biomass, PH and harvest index (HI) exposed smaller genetic advance (% mean). The co-efficient of variation (CV%) of all attributes in all genotypes were significantly lower (1.36</span></span><span style="font-family:""> </span><span style="font-family:""><span style="font-family:Verdana;">- 6.96). Both heritability and genetic advance were found lower for MD, SPAD and HI indicated their non additive genetic effects for </span><span style="font-family:Verdana;">which these traits might not be recommended for selection. However, </span><span style="font-family:Verdana;">spike/m</span><sup><span style="font-family:Verdana;">2</span></sup><span style="font-family:Verdana;">, </span><span style="font-family:Verdana;">spikelet/spike, grain/spike, thousand grain weight and yield belonged to </span><span style="font-family:Verdana;">higher heritability and high to moderate genetic advance in mean percentage (%) along with wide genetic variation and lower environmental influence in heat stress situation indicated the most likely heritability due to the effects of additive genes that might be suggested as effective process of selection for these traits in heat stress condition.
文摘The study investigated genotypic and phenotypic co-efficients of variation, heritability, genetic advance at 5% selection intensity and in percentage of population mean of nine characters (plant height, leaf number, length and width of leaf lamina, number and weight of cormels per plant, weight of corm per plant, dry matter percentage in the tubers and tuber yield per from 14 cultivars of taro [Colocasia esculenta (L.) Schott]). Results indicated highest genotypic co-efficient of variation for dry matter percentage (47.91), which was 95.78% of the phenotypic co-efficient of variation, whereas tuber yield per plant showed the widest range (819.37). Number of cormels per plant and dry matter percentage ehibited considerably higher heritability (84.90% and 91.70%, respectively) and genetic advance (81.19 and 79.00, respectively), indicating the potentiality of selection for improvement of such characters. These two characters were found to be positively correlated to tuber yield per plant. Path analysis revealed that weight of cormels per plant possessed the highest direct effect on tuber yield, indicating the importance of selection based on this character to increase tuber yield per plant.
文摘Twelve (12) Acacia senegal provenances were evaluated at the Rubber Research Institute of Nigeria, Gum Arabic Sub-Station Gashua, Yobe state. Gum yield and some morphological data were collect in three years to estimate mean effects, genetic variability, heritability and genetic advance in Acacia senegal provenances. The analysis of variance revealed highly significant difference for all traits. Genetic component analysis showed that both genotypic coefficient of variation (GCV) and phenotypic coefficient of variation (PVC) were high for all the traits except bark thickness. PCV was higher in proportion than GCV with respect to all the traits. Gum yield gave the highest relative difference (RD) over other traits. Heritability estimates were high for bark thickness (77.36) and stem diameter (61.75). Expected genetic advance was high in number of tree incision (1.29), stem diameter (1.54) and yield in kg/ha (22.31). This study indicated that there was sufficient genetic variability in Acacia senegal provenances that could be used as a base for improvement of yield and other component attributes of this species through direct selection and hybridization.
文摘The Food and Agriculture Organization has highlighted pineapple as one of the most important tropical fruits. Since classical pineapple breeding is difficult, biotechnology has emerged as an attractive instrument. We obtained two new pineapple somaclonal variants derived from in vitro culture of cv. Red Spanish Pinar: P3R5 and Dwarf. The AFLP analysis revealed an existing genetic distance. So far 44 phenotype indicators selected due to their relation to a wide range of important agricultural, morphological and physiological processes have been evaluated. P3R5 differed from the donor in 19 variables (19/44;43.18%), while Dwarf varied in 31 indicators (31/44;70.45%). The number of shoots was significantly different among the three plant materials. Dwarf showed two shoots per plant while P3R5 and the donor did not form any shoots. We also observed that water use efficiency, chlorophyll b concentration, total chlorophyll concentration, transpiration rate, chlorophyll a concentration, thickness of leaf photosynthetic parenchyma, fruit mass with crown, content of free phenolics and superoxide dismutase specific activity were also very different among the three plant materials. The Euclidean distances of each somaclonal variant to the donor plant material taking into consideration the genotype (AFLP) and the phenotype evaluations were also calculated. Regarding the genotype information, P3R5 is separated from cv. Red Spanish Pinar by 2.83 units of Euclidean distance, and Dwarf by 3.00 units. However, the phenotype indicators revealed higher differences: 3.74 in P3R5 and 4.71 in Dwarf. To our knowledge, this is the first report of a comprehensive analysis of pineapple somaclonal variants.
文摘目的总结Gitelman综合征患儿的临床及基因特点,以提高临床医生对儿童Gitelman综合征的认识和诊治。方法回顾性分析2013年7月~2020年12月首都医科大学附属北京儿童医院收治的有基因结果的32例Gitelman综合征患儿的临床资料,包括发病及确诊年龄、临床表现、实验室检查及基因变异情况。结果32例Gitelman综合征患儿中,男性23例,女性9例;发病年龄为5.000(3.043,7.628)岁,确诊年龄为8.776±3.528岁;确诊时身高标准差值(H-SDS)为-1.460±1.307SD;临床表现依次是肌肉无力46.9%(15/32),身材矮小37.5%(12/32),手足搐搦25.0%(8/32),多饮多尿21.9%(7/32),呕吐21.9%(7/32),腹痛和肢体麻木均为6.3%(2/32),恶心、四肢酸痛为3.1%(1/32)。实验室检查:100%患儿血钾降低,62.5%(20/32)血镁降低。血钾最低值为2.208±0.432mmol/L,血镁最低值为0.667±0.121mmol/L。血浆肾素(卧位)为12.860±7.239ng/(ml·h),血管紧张素(卧位)为536.500(235.200,700.100)pg/ml,醛固酮(卧位)为21.510(17.705,148.820)mg/L。24h尿钾为2.580±0.800mmol/(kg·24h),24h尿钙为0.020(0.010,0.055)mmol/(kg·24h),其中,血氯及24h尿钙在男女患儿中比较,差异有统计学意义(P分别为0.048和0.035)。32例患儿共检出36种不同SLC12A3变异,仅1例患儿为纯合,27例为复合杂合变异;3例患儿仅发现1个变异,1例患儿为多杂合变异。33.3%为新发变异(12/36),无义变异1例,剪切变异8种,移码变异7种,错义变异20种,最常见变异位点为p.D486N,见于31%(10/32)的患儿。所发现的变异形式在发病年龄、血电解质及肾素和血管紧张素水平比较,差异均无统计学意义,24h尿钾在剪切变异组较移码变异或无义变异组更高(2.338±0.718 vs 3.227±0.477,P=0.019)。结论Gitelman综合征发病年龄可在婴幼儿期,身材矮小是儿童Gitelman综合征的主要临床表现之一,p.D486N是最常见的变异位点。Gitelman综合征患者的基因变异和临床表现异质性很大,24h尿钾在移码或无义变异组与剪切变异组比较,差异有统计学意义。
文摘The lack of suitable varieties is a constraint to okra production in West Africa. This study aimed to assess the magnitude of morphological diversity of 260 accessions of okra (Abelmoschus esculentus L. Moench) in Mali. A total of 25 qualitative and quantitative traits, including plant height, number of branches, pod length, and pod yield, were measured under field conditions. Significant variation was observed for all agronomic traits (p 2 < 60), suggesting that these traits are largely controlled by genetic factors. The pod yield was affected by the incidence of diseases. Principal component analysis (PCA) revealed four distinct clusters, indicating a broad genetic base. These findings provide valuable insights for breeding programs targeting improved okra varieties with enhanced yield and resilience, contributing to sustainable agricultural development in Mali.