Defective,deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia

Summary Defects in the enzyme, steroid 21-hydroxylase, result in congenital adrenal hyperplasia (CAH), a common autosomal recessive disorder of cortisol biosynthesis. The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) have been mapped in the HLA complex on chromosome 6p, adjacent to the complement genes C4B and C4A, about 80 kb from the factor B gene. Molecular analyses of patients with CAH have shown that the cause of the defect may be either a deletion, a point mutation or a conversion of the active gene. Linkage of the disease to HLA has previously been studied by several groups. We have analyzed DNAs from patients with classical and non-classical CAH and from their family members, by probing with CYP21, C4 and BF cDNAs. In 70% of the CAH haplotypes studied, the defective CYP21B gene was indistinguishable from its structurally intact corresponding gene in Southern blot analysis, and presumably bore point mutations. In the remaining chromosomes, evidence for gene conversions, deletions and various deleterious mutations of the CYP21B gene is given. Moreover, our linkage studies show that a polymorphic TaqI cleavage site in the factor B gene, recently described by us, may be a new and useful genetic marker, because we found this TaqI restriction site only in unaffected haplotypes carrying functional CYP21B genes and, therefore, in negative association with the defective CYP21B gene.     

Plasma prolactin levels in normal children from birth to adolescence]

Plasma prolactin levels were determined by an homologous radio-immuno assay in normal children: in cord blood, at the first day of life, during childhood and along puberty. 1. In both sexes, there is a very important secretion of prolactin during the neonatal period. 2. Longitudinal studies make obvious a different pattern of plasma prolactin in boys and in girls at puberty.     

天山林区雪岭云杉和异果小檗夏季水分来源

天山雪岭云杉针叶林内乔灌木水分利用模式尚不明确,水分利用动态缺乏定量分析。本研究对雪岭云杉和伴生灌木异果小檗茎杆木质部水及各潜在水源的氢氧稳定同位素组成进行测定,运用IsoSource模型定量分析两树种夏季对各潜在水源的相对利用比例。结果表明: 7月,土壤含水量充足时,雪岭云杉和异果小檗主要吸收利用60 cm以上土壤水,相对利用比例分别为73.8%和63.2%。8月,土壤含水量相对较低时,雪岭云杉水分来源保持稳定,对60 cm以上土壤水的相对利用比例为69.5%;异果小檗则转换至利用更深层的水源,对0～20 cm浅层土壤水的相对利用比例降至14.3%,主要吸收利用中层(20～60 cm)和深层(60～100 cm)土壤水,相对利用比例为67.7%。9月,随着0～20 cm浅层土壤含水量升高,两树种恢复对浅层土壤水的吸收利用,相对利用比例达95.0%。综上,雪岭云杉表现出典型的浅根系特征,其吸收利用的水源主要来自浅层土壤水;异果小檗则能够在0～100 cm的土壤各层吸收利用水分,同时随土壤含水量的变化灵活转换其水源,从而应对环境水分变异。     

三种几丁质合成抑制剂对意大利蝗的防治研究

本文用3种几丁质合成抑制剂卡死克、噻嗪酮和灭幼脲对意大利蝗Calliptatmnus italicus(L.)卵和3龄蝗蝻进行药剂试验.实验结果显示卡死克对意大利蝗药效最高:LC50、LC90分别为1.34、14.17 mg/L.灭幼脲次之LC50、LC90分别为2.09、45.22 mg/L.灭幼脲和卡死克在50 m...     

Effects of diabetes and insulin on ketone bodies metabolism in heart

This work investigates the effect of alloxan-induced short-term diabetes (24 h) on D-3-hydroxybutyrate metabolism at physiological and non-physiological concentrations of the ketone body in the isolated non-working perfused rat heart. Also the effect of insulin (2 mU.ml⁻¹) on D-3-hydroxybutyrate metabolism was investigated in hearts from normal and diabetic rats. The rates of D-3-hydroxybutyrate utilization and oxidation and of acetoacetate production were proportional to D-3-hydroxybutyrate concentration. The utilization of D-3-hydroxybutyrate showed saturation kinetics in hearts from normal and diabetic rats, in the presence and absence of insulin. Acute short-term diabetes augmented D-3-hydroxybutyrate utilization and oxidation at 1.25 and 2.5 mM DL-3-HB, with no significant effect at higher concentrations, but increased acetoacetate production at all investigated concentrations. In hearts from normal rats, insulin enhanced D-3-hydroxybutyrate utilization and oxidation at 2.5, 5, and 10 mM DL-3-HB, but no effect was observed at the lowest (1.25 mM) and highest (16 mM) DL-3-HB concentrations. Insulin had no effect on D-3-hydroxybutyrate metabolism in hearts from diabetic rats. No significant effect of insulin on the rate of acetoacetate production in normal and diabetic states was observed.     

大车前与平车前营养器官的比较解剖学研究

利用光学显微镜和石蜡切片技术对生长在盐碱地的大车前和平车前的营养器官进行了比较解剖学研究。结果表明二者的解剖结构存在差异:平车前根的木栓层较大车前的狭窄,栓内层细胞层数较少;平车前叶表皮的细胞角质膜较薄,孔下室较小,构成维管束鞘的薄壁细胞较大车前小,束鞘细胞两层。二者都具有适应盐渍环境的结构特征:营养器官中通气组织发达;根结构中薄壁组织和木栓发达;叶表皮角质层发达。     

雪豹（Uncia uncia）研究的文献计量评价

通过对1950—2010年SCI收录和1989—2010年CSCD收录的雪豹(Uncia uncia)研究文献分析,从年度文献数量变化、国家/地区分布、主要研究机构、期刊分布、发表文献作者、基金资助机构、刊载文献类型、学科类别和语种分布9个方面,对雪豹研究文献的分布规律和研究现状进行了统计分析。结果表明:在SCI上发表雪豹研究论文的国家排名依次是美(50.6%)、英(16.5%)、印度(12.5%)和中国(5.6%);在文献量机构排名方面,国际雪豹基金会和英国爱丁堡大学并列第一,中国科学院排名第五;中国的主要合作国家中包括了美、英和中亚国家(吉尔吉斯斯坦、蒙古)。无论是分布范围还是数量,中国雪豹资源都居于世界第一,而研究却不相匹配,国内在这方面还仍需努力。     

人血红蛋白β-链基因AvaⅡ位点扩增片断长度多态性

目的：为了研究日本人群β-链基因AvaⅡ酶切位点的遗传多态性以及该位点等位基因频率的分布。方法：采用PCR- RFLP技术,对35例无血缘关系的健康日本大学生的70条染色体进行检测,然后用X~2检验进行统计学处理。结果：等位基因B_1频率为0．4715,等位基因B_2频率为0．5287,杂合度H=0．5429,期望杂合度h=0．4986,多态信息量PIC=0．7635;B_1、B_2的传递规律和理论上预计的完全符合,认为日本人群β-链基因AvaⅡ酶切位点也具有遗传多态性,表明β-链基因AvaⅡ酶切位点具有适合信息,并且与国外报道的无显著性差异。结论：这对遗传制图、基因分离、疾病的关联研究,法医学个体识别和双生子的卵性鉴定有一定的价值。     

马铃薯甲虫结节性硬化复合物基因LdTSC1和LdTSC2基因的克隆及功能分析

【目的】通过RNAi技术明确马铃薯甲虫TOR上游的关键信号集成节点及类胰岛素信号通道下游基因结节性硬化复合物TSC1和TSC2的功能。旨在为探明马铃薯甲虫类胰岛素信号转导提供更多理论支持。【方法】在NCBI(美国国家生物技术信息中心)获取马铃薯甲虫LdTSC1/2序列,分别利用多重序列比对和系统发育分析确定该基因的完整性和系统发育关系;采用喂食幼虫dsRNA的方法,观察该基因的调低对马铃薯甲虫幼虫生长发育、糖脂代谢的影响。【结果】克隆得到马铃薯甲虫TSC1编码蛋白的氨基酸序列与鞘翅目白蜡窄吉丁直系同源蛋白的氨基酸序列的自展一致度为100%,聚为一支;TSC2编码蛋白的氨基酸序列与鞘翅目白蜡窄吉丁和赤拟谷盗的同源蛋白氨基酸序列的自展一致度为100%,聚为一支。通过分别喂食2龄幼虫LdTSC1/2的dsRNA能有效降低靶标基因的表达量,幼虫出现体重减轻,化蛹率和羽化率显著下降,葡萄糖的吸收转化效率降低,海藻糖含量升高和甘油三酯均减少。【结论】下调2龄幼虫LdTSC1/2的表达量,导致试虫出现抑制了糖脂代谢、脂肪体减少、体重减轻以及发育延迟;结果表明LdTSC1/2调控了马铃薯甲虫幼虫的糖脂代谢过程,显著影响幼虫化蛹和蜕皮过程。     

春尺蠖蛹雌雄外部形态特征快速鉴别分析

为依据春尺蠖Apocheima cinerarius Erschoff蛹的形态特征快速、无损、准确鉴别雌雄个体,对其头部、胸部、腹部和体色外部鉴别特征进行了分析,并通过解剖生殖系统验证准确性.结果表明:以春尺蠖蛹的胸部和腹部特征识别雌雄准确率明显高于头部和体色特征,识别率可达100％.首先,雌蛹第8腹节腹板前缘中部具有"Y"型沟,与第7腹节腹板后缘形成倒三角状,而雄蛹无此特征.其次,雌蛹生殖孔与产卵孔连接形成裂缝,两侧平坦无突起,而雄蛹第9腹节腹板中央有一纵裂缝的生殖孔,两侧各有半圆状瘤状突起.最后,雌蛹的胸部背板各节间相对长度均小于雄蛹,而雄蛹中胸背板最宽,其后缘明显向外凸起.因此,春尺蠖蛹胸部或腹部特征可用于快速、准确地鉴别雌雄性别.