Prenatal diagnosis of 21-hydroxylase deficiency by rflp analysis of the 21-hydroxylase,complement C4, and HLA class II genes

In 19 pregnancies at risk for 21-hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.     

单细胞凝胶电泳技术在环境污染物检测中的应用

主要介绍了单细胞凝胶电泳技术(SCGE),包括SCGE的原理、方法及其在环境污染物检测中的应用,该技术可用多种污染物的检测且灵敏度高,具有广阔的应用前景。即SCGE对大气污染物、重金属、醛类及辐射污染的检测,具有高度敏感性,是具有广阔应用前景的新技术。     

Fetal urinary insulin-like growth factor I and binding protein 3 in bilateral obstructive uropathies

Fetal urinary concentrations of insulin-like growth factor I (UIGF-I) and binding protein 3 (UIGFBP-3) were determined in patients with prenatal diagnosis of bilateral obstructive uropathy. Patients were retrospectively assigned to three groups, on the basis of outcome: group 1, termination of pregnancies (n = 11) with sonographic evidence of severe oligohydramnios or renal dysplasia, confirmed at histological examination; group 2, patients (n = 10) with postnatal plasma creatinine > 50 μmol/1 at the age of 1 year (1 yr-pCreat); and group 3, patients (n = 16) with 1 yr-pCreat ≤ μmol/1. The results show a significant increase in UIGF-I and UIGFBP-3 in groups 1 (18 159 ± 9083 pg/ml; 2657 ± 669 ng/ml) and 2 (1574 ± 847 pg/ml; 176 ± 50 ng/ml) in comparison with group 3 (35 ± 6 pg/ml; 21 ± 2 ng/ml). UIGF-I and UIGFBP-3 were significantly correlated with postnatal plasma creatinine, and were both sensitive (90 per cent; 80 per cent) and specific (88 per cent; 88 per cent) for prediction of elevated 1 yr-pCreat (>50 μmol/1). Fetal urinary IGF-I and IGFBP-3 are increased in severe fetal bilateral obstructive uropathy, possibly reflecting tubular dysfunction or/and increased synthesis consequent upon fetal kidney injury. Their predictive value for postnatal renal function needs further assessment.     

Prenatal diagnosis of cystic fibrosis using linked DNA probes

This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service.     

Archaeological Evidence of Validity of Fish Populations on Unexploited Reefs as Proxy Targets for Modern Populations

Reef‐fish management and conservation is hindered by a lack of information on fish populations prior to large‐scale contemporary human impacts. As a result, relatively pristine sites are often used as conservation baselines for populations near sites affected by humans. This space‐for‐time approach can only be validated by sampling assemblages through time. We used archaeological remains to evaluate whether the remote, uninhabited Northwestern Hawaiian Islands (NWHI) might provide a reasonable proxy for a lightly exploited baseline in the Main Hawaiian Islands (MHI). We used molecular and morphological techniques to describe the taxonomic and size composition of the scarine parrotfish catches present in 2 archaeological assemblages from the MHI, compared metrics of these catches with modern estimates of reproductive parameters to evaluate whether catches represented by the archaeological material were consistent with sustainable fishing, and evaluated overlap between size structures represented by the archaeological material and modern survey data from the MHI and the NWHI to assess whether a space‐for‐time substitution is reasonable. The parrotfish catches represented by archaeological remains were consistent with sustainable fishing because they were dominated by large, mature individuals whose average size remained stable from prehistoric (AD approximately 1400–1700) through historic (AD 1700–1960) periods. The ancient catches were unlike populations in the MHI today. Overlap between the size structure of ancient MHI catches and modern survey data from the NWHI or the MHI was an order of magnitude greater for the NWHI comparison, a result that supports the validity of using the NWHI parrotfish data as a proxy for the MHI before accelerated, heavy human impacts in modern times. Evidencia Arqueológica de la Validez de Poblaciones de Peces en Arrecifes Sin Explotar como Objetivos de Apoderamiento para Poblaciones Actuales     

Level of environmental threat posed by horticultural trade in Cactaceae

Ornamental horticulture has been identified as an important threat to plant biodiversity and is a major pathway for plant invasions worldwide. In this context, the family Cactaceae is particularly challenging because it is considered the fifth most threatened large taxonomic group in the world; several species are among the most widespread and damaging invasive species; and Cactaceae is one of the most popular horticultural plant groups. Based on the Convention on International Trade in Endangered Species of Wild Flora and Fauna and the 11 largest online auction sites selling cacti, we documented the international cactus trade. To provide an in‐depth look at the dynamics of the industry, we surveyed the businesses involved in the cactus trade in South Africa (a hotspot of cactus trade and invasions). We purchased seeds of every available species and used DNA barcoding to identify species to the genus level. Although <20% of this trade involved threatened species and <3% involved known invasive species, many species were identified by a common name. However, only 0.02% of the globally traded cacti were collected from wild populations. Despite a large commercial network, all South African imports (of which 15% and 1.5% were of species listed as threatened and invasive, respectively) came from the same source. With DNA barcoding, we identified 24% of the species to genus level. Based on our results, we believe that if trade restrictions are placed on the small proportion of cacti that are invasive and there is no major increase in harvesting of native populations, then the commercial trade in cactus poses a negligible environmental threat. However, there are currently no effective methods for easily identifying which cacti are traded, and both the illicit harvesting of cacti from the wild and the informal trade in invasive taxa pose on‐going conservation challenges.     

铜胁迫对不同基因型谷子幼苗基因组DNA多态性的影响

采用室内盆栽土培法,以4种基因型谷子(D2-8、安06、黄米、朝谷)为供试材料,研究了不同浓度Cu2+胁迫对谷子幼苗体内可溶性糖、脯氨酸、丙二醛(MDA)含量和基因组DNA多态性的影响.结果表明,经50~400 mg·kg-1Cu2+处理30 d后,4种谷子幼苗体内可溶性糖含量与对照相比呈现先上升后下降的趋势,在50 mg·kg-1时达到最大值.当浓度为200mg·kg-1以上时,4种谷子的可溶性糖含量的平均降幅为对照的32.44%~56.5%.脯氨酸则表现为低含量(≤50 mg·kg-1)的促进和高含量(≥100 mg·kg-1)的抑制效应,MDA含量均有增加且与对照差异显著(P<0.05).Cu2+胁迫下不同基因型谷子幼苗基因组DNA的RAPD图谱发生明显变化,表现为单条或多条RAPD谱带的增加和缺失或者荧光强度的改变,细胞中基因组模板DNA的稳定性下降,DNA多态性变化与Cu2+浓度之间存在剂量-效应关系.不同基因型谷子对Cu2+胁迫的生理和遗传损伤响应存在差异.利用RAPD技术获得的DNA多态性变化可作为检测Cu2+遗传毒性效应的生物标记物.     

重金属离子快速检测技术研究与应用进展

在突发环境污染事件和区域生态风险筛查中迫切需要环境样品中重金属离子的快速检测技术手段。环境样品中重金属离子的快速检测技术有电化学方法和生物学方法。电化学检测方法主要是阳极溶出伏安法(AnodicStripping Voltammetry,ASV),可以同时检测多种重金属离子,有标准化认证的产品,但是检测成本相对较高。随着纳米粒子技术(Nanoparticles,NPs)和石英微天平分析技术(Quartz Crystal Microbalance,QCM)的引入,ASV法的检测成本将不断降低;生物检测方法包括免疫检测(Immunoassay,IA)和功能DNA(Functional DNA)检测技术。重金属离子的免疫检测技术样品通量大,检测成本低,已经广泛用于食品行业,其中汞离子的免疫检测方法已经成为环境样品标准检测方法之一。免疫检测传感器技术将拓展重金属离子的快速检测的应用空间。功能DNA传感器检测的研究为重金属离子的快速检测提供了新的技术手段,但是这些仅限于实验室研究,还没有达到实际应用的水平。     

乌鲁木齐大气PM2.5对质粒DNA的损伤研究

2012年1月~2012年12月采集乌鲁木齐大气PM2.5样品,使用质粒DNA评价法研究了不同季节PM2.5的氧化能力,并进行氧化性毒性与相应气象因素和质量浓度之间的相关性研究.结果表明,乌鲁木齐大气PM2.5的质量浓度具有冬季最高,春季和秋季次之,夏季最低的季节性变化特征;PM2.5全样和水溶部分氧化能力的季节差异较大,对质粒DNA的氧化性损伤具有冬季最大,春季和夏季之次,秋季最低.冬、春、夏、秋季大气PM2.5全样的TD30(PM2.5对质粒DNA造成破坏达到30%所需要的颗粒物的剂量)平均值分别为440,491,503,515μg/mL,水溶部分分别为474,721,666,600μg/mL.绝大部分PM2.5样品全样的TD30值均小于水溶部分样,表明全样的毒性大于相应的水溶部分样.全样TD30值与平均温度显著(P<0.05)正相关,表明寒冷的天气/季节可能造成PM2.5的高毒性.水溶样TD30值与风速显著(P<0.01)正相关,与相对湿度显著负相关.这表明,高的风速和低的相对湿度可能跟较低和较高的PM2.5的毒性有关.PM2.5氧化性损伤能力的大小与其质量浓度之间的相关性不明显,表明仅以颗粒物的质量浓度来评价大气颗粒物氧化性损伤能力大小的方法并不能真实地反映其对人体健康的危害程度,起决定作用的还是颗粒物的化学组成及其表面吸附的有害成分.     

水库水氯化消毒副产物毒性研究

为了证实水库出水的氯化消毒副产物CHClBr2和CHBr3具有一定的遗传毒性,将水库出水进行浓缩富集研究其对小鼠脾脏淋巴细胞DNA的影响。同时分别与水库枯水期和丰水期出水的小鼠彗星实验结果进行了对比,发现氯化消毒副产物CHClBr2和CHBr3的DNA损伤效应同时高于两个水期的出厂水。