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The polymorphic information content (PIC) and the degree of heterozygosity of several polymorphic systems within the phenylalanine hydroxylase (PAH) gene were determined in 85 European Caucasian and 19 Chinese phenylketonuria (PKU) kindreds. The first system examined, a short tandem repeat (STR), had a PIC of 80 and 73 per cent in these Caucasian and Chinese samples, respectively. The degree of heterozygosity actually observed for this system was 81 and 64 per cent in the Caucasian and Chinese PKU families, respectively. Through the addition of a second polymorphism based on a variable number of tandem repeats (VNTR), the PIC was increased to 90 per cent in Caucasians, but only to 75 per cent in Chinese. The degree of heterozygosity observed for this combination was 94 per cent in European PKU families and 67 per cent in Chinese PKU families. The further addition of an Xmnl RFLP increased both the PIC and the level of heterozygosity in Caucasians to 95 per cent, but did not change either of these measures in Chinese. The combined use of these three polymorphisms significantly increases the informativity of prenatal diagnostic and carrier screening procedures in both Caucasian and Chinese PKU kindreds. Furthermore, since each of these polymorphisms can be studied by PCR-based methods, these new tests can be performed more quickly and easily than previous Southern-based procedures. 相似文献
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We report a study which examined whether the decision of 135 couples to accept prenatal cystic fibrosis (CF) carrier screening would be influenced by the advent of gene therapy. A majority (91 couples; 67 per cent) felt that gene therapy for CF would not influence their decision to be screened. Twenty-two couples (16 per cent) stated that they would decline to be screened and an equal number felt ambivalent. Even if the life expectancy of a CF sufferer were increased by gene therapy to normal, 78 per cent of couples would still wish to avail themselves of prenatal carrier screening. A majority of women who decline screening do so because they are opposed to termination of pregnancy. The availability of gene therapy could increase the proportion of couples who accept screening. 相似文献
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Dr A. Ghosh J. S. K. Woo C. W. Wan C. Machenry V. Wong H. K. Ma Vivian Chan T. K. Chan 《黑龙江环境通报》1985,5(1):59-65
Haemoglobin A2 (HbA2) levels were determined on 25 β-thalassaemia carriers by the microcolumn method and were found to range from 4.5–7.2 per cent (mean 5.2±0.82 S.D.). The haemoglobin level (Hb), mean corpuscular volume (MCV), plasma ferritin and HbA2 levels were measured on a further 299 cconsecutive Chinese pregnant women at a gestation of less than 24 weeks. 18 patients (6 per cent) had HbA2 level greater than 4.5 per cent and were diagnosed to be β-thalassaemic carriers. It was observed that all these patients had a MCV below 75 fl. If this level is selected in a screening procedure based on measurement of MCV alone all β-thalassaemia carriers could be detected and 11 per cent of the population screened would require HbA2 estimation. At a lower cut-off level of 70 fl, 8 per cent of the population screened wouid require HbA2 measurement (a decrease of 27 per cent) but the detection rate will be lowered considerably (83 per cent). The high false positive rate at all cut-off levels of MCV was largely due to the prevalence of iron deficiency anaemia in the population. Estimation of plasma ferritin level in patients with low MCV will reduce this false positive rate, but there will be a considerable delay in diagnosis in patients with concomitant iron deficiency and β-thalassaemia. The presence of iron deficiency in β-thalassaemia carriers did not reduce their HbA2 level below the diagnostic range in this study. Measurement of Hb level did not appear to be useful as a screening method since one third of the β-thalassaemia carriers had a Hb level over 11 g/dl. The validity of the MCV cut-off levels derived from the first part of the study was assessed in screening a larger population. 61 β-thalassaemia carriers (6 per cent) were detected out of 1166 patients screened. This incidence was not significantly different from the first part of the study. All these 61 patients had a MCV less than 75 ml. It was concluded that a two-step screening policy, based on MCV measurement followed by HbA2 estimation when the MCV value is less than 75 fl, is suitable for our population. It is efficient, straight forward with excellent sensitivity and required less time and effort for both laboratory staff and clinicians. 相似文献
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北京地区突发性地质灾害易发区划及危险度评价 总被引:1,自引:0,他引:1
本文在认真分析北京地区地质环境的主要特征及地质灾害发育现状基础上,对泥石流、采空塌陷以及崩滑塌等突发性灾害的发育特征、分布规律及其主要影响因素进行了深入地分析、研究和探讨.采用袭扰系数法,对区内突发性地质灾害的易发程度进行了综合评价预测,圈定出突发性地质灾害高易发区、中易发区、低易发区和不易发区.采用模糊综合评判模型,对影响地质灾害演变趋势的降雨条件、人类工程活动、地震活动以及区域岩组结构等因素进行了综合评判,并依据突发性地质灾害的易发区划结果及其主要影响因素的综合评判结果,对其演变的危险程度进行了评价,将北京地区划分出突发性地质灾害高风险区、中风险区以及低风险区.这对政府相关部门制定减灾防灾、资源开发、环境整治、经济建设和社会发展等规划具有一定的参考作用. 相似文献
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Fifty-two second-trimester and eight third-trimester (>28/40) autopsies with clinical or pathological evidence of oligohydramnios sequence (“Potter's syndrome”) were reviewed. Twenty-eight cases had renal anomalies (71 per cent in terminations following prenatal ultrasound), 27 had no renal malformation (35 per cent with chorioamnionitis), and five had external assessments only. In 15 cases, the renal lesion was part of a multiple malformation syndrome. Seven cases had a lesion which either recurred in a sibling in the same family or was a recognized autosomal recessive syndrome. Three cases had an abnormal karyotype, two of which had renal anomalies. Maternal serum alpha-fetoprotein (AFP) did not discriminate between cases with renal malformations and those without. Pulmonary hypoplasia was commoner in third-trimester than in second-trimester cases. External appearance and absent umbilical artery were not reliable predictors of underlying internal anomalies. These findings reflect the shift from postnatal to prenatal diagnosis in modern practice. In this series, mainly second-trimester cases, 50 per cent of cases had no malformations, in a condition which is traditionally associated with renal disease. The high incidence of chorioamnionitis suggests that the mechanism of oligohydramnios is occult amniotic fluid leakage. Prenatal diagnosis of oligohydramnios in the second trimester is dependent on ultrasound scanning and a full post-mortem examination is necessary to identify any underlying fetal cause. 相似文献
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道路宽度及车速对交通噪声的影响 总被引:4,自引:0,他引:4
交通噪声受到道路宽度及车行速度的影响。本文采用SPSS软件(社会科学应用软件)数据处理模型对道路监测结果进行分析处理。找出路宽、车速、交通噪声三者关系。并运用SPSS软件推算出的公式对道路噪声控制进行预测。 相似文献
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试验采用外周血红细胞微核测试技术,通过分析鳝鱼外周血细胞的核异常率和微核率,研究多氯代甲烷的遗传毒性和生态安全性.结果表明:①96 h后,质量浓度为3 mg·L-,30 mg·L-1和300 mg·L-1的CCl4和CHCl3污染所产生的核异常率分别为:5.38%和4.26%,9.62%和6.50%,12.18%和9.54%,表明CCl4对细胞异常率的影响大于CHCl3对细胞核异常率的影响;②96 h后,质量浓度为3 mg·L-1,30 mg·L-1和300 mg·L-1的CCl4和CHCl3污染所产生的微核率分别为:0.64%和0.40%,0.94%和0.55%,1.31%和0.95%,说明CCl4对细胞微核率的影响大于CHCl3对细胞核微核率的影响.表明用微核测试的方法分析环境中的污染物对生物体危害的程度是一种最便捷和有效的手段. 相似文献
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高效藻类塘的研究与应用 总被引:34,自引:0,他引:34
高效藻类塘在国外研究和应用较多。文章着重介绍了高效藻类塘中藻类和细菌的作用,污染物、氮磷的去除机理,塘内藻类的去除及不同季节塘内的优势藻种。与传统的稳定塘比较,高效藻类具有停留时间短,占地面积小,费用低等优点,为处理小城镇及农村的污水提供了一可行的途径。 相似文献
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R.L. Brandenburg 《Agriculture, ecosystems & environment》1985,13(2):159-166
Spray coverage, as measured by water-sensitive paper at the soil surface, indicates that plant height significantly affected coverage while spray volume had little effect. Methomyl and fenvalerate insecticides applied to different alfalfa heights at various carrier volume rates reduced arthropod populations even at lower application volumes. Carrier volume had little impact on the level of arthropod reductions in each plot. Plant height also showed little influence on arthropod mortality. Within the limits of effective pest control there appears to be little potential for reduced impact on beneficial species resulting from refined insecticide carrier volume rates in alfalfa. 相似文献
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除尘效率是衡量废气污染原治理设备性能的重要指标。因现场监测条件的制约,会出现除尘系统进出口烟气流量差距过大的现象,由此不能真实反映除尘系统的状况。本文通过对实测数据的分析说明:对高效率除尘器而言,进出口烟气流量相关1-1.5倍时,对除尘效率的计算可视为无影响。 相似文献
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Krystyna Piotrowska Deborah Edwards Alan Mitch Ralph C. Dougherty 《Die Naturwissenschaften》1980,67(9):442-445
Experiments are reported in which three prochiral organic reactions were conducted in the presence of a ca. 1T magnetic field which was oriented with reference to the earth's geometric axes. The sign and magnitude of the rotation varied with the macroscopic orientation of the magnetic field and the time that the reaction was performed. Control measurements were in accord with expectations. The fact that the sign of the observed optical rotation of the product was reversed for all three reported reactions when the magnetic field was reversed for reactions conducted on the same day suggests that either the observed asymmetric synthesis was due to the reactions being conducted in a chiral physical field or extremely unusual stochastic processes were involved. 相似文献
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E. E. C. Roelofsen L. I. Kamerbeek Tj. Tymstra J. R. Beekhuis A. Mantingh 《黑龙江环境通报》1993,13(8):741-747
We studied the opinions and experiences concerning maternal serum screening of two groups of women: (A) women who were not eligible for prenatal diagnosis; and (B) women for whom prenatal diagnosis was available because of advanced maternal age, and who either underwent chorionic villus sampling or amniocentesis. Many of the women were in favour of the availability of serum screening and would apply for this test in a future pregnancy. This applied also to many respondents who had previously undergone prenatal diagnosis. Most of these women, however, did not intend to decline diagnostic amniocentesis if the screening results did not indicate an increased risk. The majority of the group of respondents of 36 years and over did not consider it acceptable if age indication was dropped altogether. A system based on serum screening will have other implications than a policy based on age indication, since specific individual risk assessment is perceived as being of more significance than a risk statistically derived from age alone. Serum screening is often seen as a means of reassurance and many women are not aware of the possible drawbacks. As technology becomes increasingly complicated, counselling has to be adjusted correspondingly. Further research is needed to establish whether and how distress can be minimized and well-considered individual choice can be achieved. 相似文献
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C. A. Dell'Agnola V. Tomaselli E. Teruzzi B. Tadini A. G. Coran Surgeon-in-Chief 《黑龙江环境通报》1993,13(7):629-632
The impact of prenatal sonographic diagnosis of oesophageal and gastrointestinal obstructions has been analysed over a 10-year period. Three groups of patients were evaluated. The first group consisted of 46 newborns with abnormal prenatal sonogratns, 41 of which were confirmed to have intestinal obstruction postnatally. The second group consisted of 17 neonates with normal prenatal sonograms who had intestinal obstruction postnatally. The third group included 56 newborns who did not undergo a prenatal sonogram but who had intestinal obstruction confirmed at surgery. Polyhydramnios without the appearance of a stomach on ultrasound was diagnostic of pure oesophageal atresia. Polyhydramnios with intestinal dilation was diagnostic of intestinal obstruction. Although surgery was performed earlier in the infants diagnosed prenatally with ultrasound, mortality was no less than in the group that did not undergo a prenatal sonogram, probably because of the high incidence of associated anomalies. 相似文献
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三株驯化细菌苯酚降解率的比较研究 总被引:1,自引:0,他引:1
文章对从农药厂、三化厂和焦化厂废水中分离的细菌NYC-1A、SHC-1B和JHC-1C,通过逐步提高苯酚浓度对它们加以驯化,采用模拟SBR工艺对驯化前后三株细菌对含有苯酚的培养液的处理效率进行了比较研究。结果表明:细菌湿重为1g/L,苯酚培养液经处理16h后,JHC—1C的苯酚降解率最高为89.59%;其次为NYC-1A,降解率为77.88%;SHC-1B的降解率最低,降解率为53.31%。驯化后三株细菌处理苯酚培养液3h,NYC-1A降解率最高为76.37%,SHC—1B的降解率为69.29%,JHC—1C的降解率为45.66%。通过本文研究,表明苯酚降解菌经驯化后可有效提高降解苯酚的效率。 相似文献
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针对储气库注采井特殊的服役环境,以某储气库X注采井为例,基于腐蚀监测数据,采用灰色预测法预测得到该井2017年腐蚀速率为0.0308 mm/a,属中度腐蚀,建议采取增加剩余壁厚测试、加注缓蚀剂等措施减缓管柱腐蚀,该方法对于同类储气库管柱腐蚀防护具有借鉴意义。 相似文献
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试验研究微域培养中土壤深度,油水添加次序以及搅拌等因素对石油降解速率的影响,结果表明:微域中随着土壤深度由4mm增加到32mm,CO2累积释放量下降16.7T%,石油碳氢化合物降解量减少18.2%;先加水后加油可增加CO2累积释放量达36.5%,TPH降解量提高21.5%;搅拌可以增加CO2释放与TPH的降解。 相似文献