目的探讨先天性类脂质性肾上腺皮质增生症患儿的临床及类固醇生成急性调控蛋白(steroidogenic acute regulatory protein,StAR)基因突变特点。方法收集2例先天性类脂质性肾上腺皮质增生症患儿临床资料,采集患儿及其父母静脉血2mL,用二...目的探讨先天性类脂质性肾上腺皮质增生症患儿的临床及类固醇生成急性调控蛋白(steroidogenic acute regulatory protein,StAR)基因突变特点。方法收集2例先天性类脂质性肾上腺皮质增生症患儿临床资料,采集患儿及其父母静脉血2mL,用二代测序技术对2例患儿44个肾上腺皮质功能减退相关基因的外显子及其相邻内含子进行检测,对所检出的StAR基因突变用sanger测序验证,并对患儿父母StAR基因进行验证分析;对StAR基因突变相关文献进行复习。结果 2例患儿均为46XX女性,均为新生儿期发病;以皮肤色素沉着、呕吐、体重不增等肾上腺皮质功能减退症状为主要表现;实验室检查示血低钠高钾、促肾上腺皮质激素显著增高,皮质醇及17羟孕酮降低,睾酮、雄烯二酮、脱氢表雄酮等各雄性激素不高;经皮质激素氢化可的松及9α-氟氢可的松替代治疗后生长正常;母妊娠史及患儿出生史、家族史无特殊。StAR基因突变分析显示病例1为c.229G>A(p.Q77X)及c.772G>A(p.Q258X)复合杂合已知致病突变;病例2为c.707_708delAG ins CTT(p.K236Tfs*47)纯合已知致病突变;2例患儿父母均为突变携带者。结合中国已报道13例StAR基因突变患儿,c.772G>A(p.Q258X)突变发生率为53.3%(8/15),c.707_708delAG ins CTT(p.K236Tfs*47)发生率为33.3%(5/15)。结论17羟孕酮及雄性激素不高的原发性肾上腺皮质功能减退患儿,尤其是女性表型者,应行染色体及StAR基因检测;c.772C>T(p.Q258X)及c.707_708delAG ins CTT(p.K236Tfs*47)突变可能为中国StAR基因突变热点;适当皮质激素替代治疗可使患儿长期生存、生长正常。展开更多
Powdery mildew, caused by Erysiph necator, is a common and severe fungal disease of grapevine all over the world. The disease costs millions of dollars to vine growers, due to intensive use of fungicides and yield los...Powdery mildew, caused by Erysiph necator, is a common and severe fungal disease of grapevine all over the world. The disease costs millions of dollars to vine growers, due to intensive use of fungicides and yield losses. Recently in population of E. necator two genetic groups have been described, the two groups seem to occupy different temporal niches, with a temporal alternation that is clear-cut in vineyards intensively treated with chemical fungicides. QoI-STAR (Quinol Outside Inhibitors-Strobilurin Type of Action and Resistance) fungicides are widely used to control the disease, and generally carry a high risk of pathogen resistance development. To clarify the behaviors of the biotrophic fungus when treated with azoxystrobin as a representative of QoI-STAR, baseline sensitivity of laboratory isolates were determined. A leaf bioassay and the primers RSCBF1 and RSCBR2 designed on the highly conserved regions of cytb gene in fungi were used. Partial sequence of E. necator cytb gene were obtained. Attempts to obtain a laboratory mutant were not totally successful. The sensitivity to azoxystrobin (EC50) in isolates of genetic group B was significantly higher than in isolates of group A, to which all the isolates collected later in the season belonged. The higher sensitivity to azoxystrobin fungicides observed in group B isolates can be at the basis of their precocious disappearance in vineyards, and can have important implications for powdery mildew control strategies.展开更多
对阳江豆豉分离菌株进行多项分类鉴定,并对该菌中性蛋白酶基因克隆和序列分析,预测菌株中性蛋白酶二级结构。采用18SrRNA基因序列鉴定菌株,并以菌株中性蛋白酶的氨基酸序列为基础,应用DNA Star Protean软件对蛋白酶的二级结构进行预测...对阳江豆豉分离菌株进行多项分类鉴定,并对该菌中性蛋白酶基因克隆和序列分析,预测菌株中性蛋白酶二级结构。采用18SrRNA基因序列鉴定菌株,并以菌株中性蛋白酶的氨基酸序列为基础,应用DNA Star Protean软件对蛋白酶的二级结构进行预测。通过形态和18SrRNA基因序列分析,鉴定该菌株为米曲霉Aspergillus oryzae。通过RT-PCR和PCR从菌丝体中克隆了基因序列,与产中性蛋白酶有关的核苷酸序列有2 113bp,推测出634个氨基酸序列。展开更多
目的:观察STAT3-SURVIVIN途径在槲皮素调控胃癌细胞SGC7901增殖和凋亡中的作用.方法:不同浓度的槲皮素及阳性对照组(AG490 40μmol/L)作用细胞后,MTT法检测细胞毒作用;流式细胞术检测细胞凋亡;Real time RT-PCR,Western Blotting检测sta...目的:观察STAT3-SURVIVIN途径在槲皮素调控胃癌细胞SGC7901增殖和凋亡中的作用.方法:不同浓度的槲皮素及阳性对照组(AG490 40μmol/L)作用细胞后,MTT法检测细胞毒作用;流式细胞术检测细胞凋亡;Real time RT-PCR,Western Blotting检测stat3,survivin基因mRNA及蛋白的表达.结果:随作用时间延长和浓度增高,槲皮素对SGC7901细胞增殖的抑制作用增强.48h槲皮素40μmol/L组与阳性对照组凋亡率相近.Stat3,survivin mRNA之间呈直线相关关系(r=0.697,P=0.002),且p-stat3和survivin蛋白也呈直线相关关系(r=0.748,P=0.003).结论:槲皮素可能通过调控STAT3-SURVIVIN途径抑制胃癌SGC7901细胞增殖并诱导凋亡.展开更多
文摘目的探讨先天性类脂质性肾上腺皮质增生症患儿的临床及类固醇生成急性调控蛋白(steroidogenic acute regulatory protein,StAR)基因突变特点。方法收集2例先天性类脂质性肾上腺皮质增生症患儿临床资料,采集患儿及其父母静脉血2mL,用二代测序技术对2例患儿44个肾上腺皮质功能减退相关基因的外显子及其相邻内含子进行检测,对所检出的StAR基因突变用sanger测序验证,并对患儿父母StAR基因进行验证分析;对StAR基因突变相关文献进行复习。结果 2例患儿均为46XX女性,均为新生儿期发病;以皮肤色素沉着、呕吐、体重不增等肾上腺皮质功能减退症状为主要表现;实验室检查示血低钠高钾、促肾上腺皮质激素显著增高,皮质醇及17羟孕酮降低,睾酮、雄烯二酮、脱氢表雄酮等各雄性激素不高;经皮质激素氢化可的松及9α-氟氢可的松替代治疗后生长正常;母妊娠史及患儿出生史、家族史无特殊。StAR基因突变分析显示病例1为c.229G>A(p.Q77X)及c.772G>A(p.Q258X)复合杂合已知致病突变;病例2为c.707_708delAG ins CTT(p.K236Tfs*47)纯合已知致病突变;2例患儿父母均为突变携带者。结合中国已报道13例StAR基因突变患儿,c.772G>A(p.Q258X)突变发生率为53.3%(8/15),c.707_708delAG ins CTT(p.K236Tfs*47)发生率为33.3%(5/15)。结论17羟孕酮及雄性激素不高的原发性肾上腺皮质功能减退患儿,尤其是女性表型者,应行染色体及StAR基因检测;c.772C>T(p.Q258X)及c.707_708delAG ins CTT(p.K236Tfs*47)突变可能为中国StAR基因突变热点;适当皮质激素替代治疗可使患儿长期生存、生长正常。
文摘Powdery mildew, caused by Erysiph necator, is a common and severe fungal disease of grapevine all over the world. The disease costs millions of dollars to vine growers, due to intensive use of fungicides and yield losses. Recently in population of E. necator two genetic groups have been described, the two groups seem to occupy different temporal niches, with a temporal alternation that is clear-cut in vineyards intensively treated with chemical fungicides. QoI-STAR (Quinol Outside Inhibitors-Strobilurin Type of Action and Resistance) fungicides are widely used to control the disease, and generally carry a high risk of pathogen resistance development. To clarify the behaviors of the biotrophic fungus when treated with azoxystrobin as a representative of QoI-STAR, baseline sensitivity of laboratory isolates were determined. A leaf bioassay and the primers RSCBF1 and RSCBR2 designed on the highly conserved regions of cytb gene in fungi were used. Partial sequence of E. necator cytb gene were obtained. Attempts to obtain a laboratory mutant were not totally successful. The sensitivity to azoxystrobin (EC50) in isolates of genetic group B was significantly higher than in isolates of group A, to which all the isolates collected later in the season belonged. The higher sensitivity to azoxystrobin fungicides observed in group B isolates can be at the basis of their precocious disappearance in vineyards, and can have important implications for powdery mildew control strategies.
文摘对阳江豆豉分离菌株进行多项分类鉴定,并对该菌中性蛋白酶基因克隆和序列分析,预测菌株中性蛋白酶二级结构。采用18SrRNA基因序列鉴定菌株,并以菌株中性蛋白酶的氨基酸序列为基础,应用DNA Star Protean软件对蛋白酶的二级结构进行预测。通过形态和18SrRNA基因序列分析,鉴定该菌株为米曲霉Aspergillus oryzae。通过RT-PCR和PCR从菌丝体中克隆了基因序列,与产中性蛋白酶有关的核苷酸序列有2 113bp,推测出634个氨基酸序列。
