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M Yamamoto D Molina-Gomes E Girodon-Boulandet M Moulis B Leroy B Simon-Bouy J Selva Y Ville 《黑龙江环境通报》2006,26(1):6-8
We present a case of a fetus with hyperechogenic bowel, in which the L548Q mutation was detected in the mother of Japanese origin and the ΔF508 mutation in the father of Caucasian origin. The fetus proved to be compound heterozygous. Research into cystic fibrosis transmembrane conductance regulator (CFTR) mutations in this case was triggered by the fact that the fetus had a characteristic hyperechogenic bowel image with normal karyotype and no indications of intrauterine infections. Hyperechogenic bowel is highly indicative of a CFTR gene mutation. The incidence of cystic fibrosis (CF) in fetuses with mid-trimester hyperechogenic bowel is 5%, but once the most frequent mutations have been accounted for, rarer mutations must be investigated. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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采用以磷脂为唯一碳源的限制性培养基,从富油土样中筛选得到一株磷脂酶活性较高的菌株Achromobacter sp. BIT-56. 经紫外诱变处理后其磷脂酶活力比原始菌株提高了73.3%,进一步采用紫外-硫酸二乙酯(DES)复合诱变后其磷脂酶活力提高了95.6%. 利用该菌株生产的磷脂酶进行豆油脱胶研究,其适宜的脱胶条件:脱胶温度为40 ℃,pH为5.0,加酶量为100 U/kg,加水量为4%,脱胶时间为4 h,在该条件下脱胶油中磷脂的去除率高达75.6%. 相似文献
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天水位于青藏高原东北部的副热带北部边缘,受大陆性季风气候的影响,生态环境脆弱,是研究全球变化区域响应的理想之地。基于天水市1901—2016年的月平均气温资料,运用一元线性回归、5年滑动平均和Mann-Kendall非参数检验等方法分析了过去116年来天水市气温在不同尺度上的变化特征及突变节点。结果表明:天水市1901—2016年气温总体呈上升趋势,气候倾向率为0.058℃?(10a) ?1。各季节均表现出增温趋势,春季、夏季、秋季和冬季的线性倾向率分别为0.084℃?(10a) ?1、0.019℃?(10a) ?1、0.022℃?(10a) ?1、0.102℃?(10a) ?1。最冷月份1月及最热月份7月同样表现出增温趋势,线性倾向率依次为0.085℃?(10a) ?1、0.038℃?(10a) ?1。年平均气温在1923年和1993年发生了两次突变。春季和秋季突变年与年平均气温基本一致,夏季气温突变存在超前和滞后现象,冬季突变时间为1978年。最冷月份1月平均气温在1977年发生突变,最热月份7月平均气温突变年份集中在2000年之后。总体而言,天水市过去一百多年来,气温呈上升趋势与全球变暖大背景一致。 相似文献
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高效石油降解菌的选育及其降解特性研究 总被引:14,自引:5,他引:14
从石油化工厂附近的污染土壤中分离到三株石油降解菌w1、w2和w3,经鉴定分别是不动杆菌属、芽孢杆菌属和假单胞菌属。初步研究了菌株的生长特性与其降解石油能力的关系,并将w1和w2进行紫外诱变得到诱变菌yw1和yw2。对诱变前后的菌株进行石油降解实验,结果表明,诱变前的菌株在原油浓度为4000mg/L培养液中培养10d,原油的降解率分别为74.34%和77.58%。而诱变菌株10d降解率达到了79.9%和87.3%。同时,诱变菌株还大大提高了对高浓度石油的耐受能力。 相似文献
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本实验研究甲醛污染的淡水和海水对细菌、植物和动物的生物学效应。甲醛的毒害作用是显著的。含0.036—0.36%甲醛的纯水能引起鼠伤寒沙门氏菌组氨酸缺陷型菌株TA100的回复突变,含0.036%、0.0036%、0.00036%甲醛的水溶液行短期(6h)处理紫露草花枝基部,24h休复后发现四分体细胞中微核率显著增高。含0.0018%、0.0036%、0.018%甲醛的水处理蚕豆根,引起根尖细胞中微核率明显增高。0.00018%甲醛的海水使马粪海胆幼虫在45min内死亡。0.0072%甲醛的海水使该幼虫在2min内死亡。0.0072%甲醛的海水能使贻贝担轮幼虫在5min内死亡。0.00018%甲醛的海水使贻贝幼虫在48h内死亡。0.000108%甲醛的海水使马粪海胆幼虫在72h内死亡。实验证明蚕豆根尖细胞和海胆幼虫是良好的监测淡水与海水污染的材料,甲醛能引起DNA中碱基对置换突变。甲醛在海水中产生增效效应。 相似文献
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Marianne Schwartz Ph.D. David N. Cooper David S. Millart Vijay V. Kakkar Elma Scheibel 《黑龙江环境通报》1992,12(11):861-866
A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA → TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in fetal DNA from a chorionic villus sample. The mutation was also detectable by chemical cleavage of mismatch (CCM), which both confirmed the prenatal diagnosis and established the carrier status of the proband's sister. This example therefore serves to illustrate the potential of direct gene analysis in sporadic cases of haemophilia A and/or in families uninformative for known RFLPs. 相似文献
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Shahid Mahmood Baig Ayesha Azhar Hammad Hassan Jamshaid Mahmood Baig Muhammad Aslam Mohammad Amin Ud Din Javed Anver Qureshi Tariq Zaman 《黑龙江环境通报》2006,26(10):903-905
Pakistan has a large population of more than 150 million people with an overall carrier frequency of approximately 5.6% for β-thalassemia. Punjab is the largest province of the country having more than 50% of the population. The state of β-thalassemia is alarming as consanguinity is very high (>81%) and the literacy rate is low in South Punjab. A thalassemia prevention program is the need of the hour in this part of Pakistan. In this study, we initiated awareness, screening, and characterization of the mutations causing β-thalassemia as well as a genetic counseling program mainly in the districts of Faisalabad and D.G. Khan to establish prenatal diagnosis, a facility previously unavailable in this region for disease prevention. A total of 248 unrelated transfusion-dependent children and the available members of their families were screened to characterize the mutations and identify the carriers. Genetic counseling was provided to these families and prenatal diagnosis offered. In the samples analyzed, 11 β-thalassemia mutations and three hemoglobin variants were detected mainly by using the Monoplex and Multiplex ARMS-PCR. First-trimester prenatal diagnosis was carried out through chorionic villus sampling (CVS) in seven pregnancies at risk. As a result of our campaign, 145 carrier couples planning to have more children gave their consent to have retrospective prenatal diagnosis in every pregnancy in future. A cooperative trend and a positive attitude toward the prevention of β-thalassemia were noticed in the families with affected children and in the general population. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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J. L. Johnson K. V. Rajagopalan W. O. Renier I. Van der Burgt W. Ruitenbeek 《黑龙江环境通报》2002,22(5):433-436
Isolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation pathway. In its classical, severe form, sulfite oxidase deficiency leads to intractable seizures, severe and progressive brain pathology and death at an early age. We report here on clinical features and mutational analysis of the genetic defect in a newborn with sulfite oxidase deficiency. Cultured fibroblasts from this patient exhibited no detectable sulfite oxidase activity, and a unique four base pair deletion was present in the cDNA isolated from the same source. Identification of the same genetic defect in a heterozygous state in each of the parents and the monitoring of subsequent pregnancies in this family by DNA-based prenatal diagnosis are also described. The deletion mutation was identified in a homozygous state in uncultured chorionic villus tissue from the second pregnancy that was subsequently terminated. In the third pregnancy, the presence of sulfite oxidase activity and identification of the mutation in a heterozygous state suggested that the fetus was not affected. This pregnancy resulted in the birth of a normal child. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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The great majority of genetic defects underlying steroid 21-hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21 and CYP21P genes. For a minority, novel sporadic point mutations have been detected. De novo mutations in CYP21 have also been reported, but only a few studies have systematically screened their occurrence. We here describe a population-based patient sample in order to estimate the rate of single-family (i.e. sporadic) and de novo germline mutations in the human CYP21 locus. Among 76 Finnish families were observed three single-family mutations and two de novo mutations in CYP21. The rates obtained, ∼5% and ∼2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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M. Aseev V. Surin K. Baboev N. Gornostaeva T. Kuznetzova T. Kascheeva T. Ivaschenko G. Solovyev A. Mikhailov V. Lebedev L. Papaian T. Andreeva Dm. Amoashyi V. Vakharlovsky Professor V. S. Baranov 《黑龙江环境通报》1994,14(7):513-522
RFLP analysis of some intra- and extra-genic polymorphic sites of Factor VIII (FVIII) and Factor IX (FIX) genes with relevant DNA probes or by polymerase chain reaction (PCR) was carried out in Slavic populations from the European part of Russia and also in the native ethnic groups of Uzbekistan and Kazahstan. The allele frequencies for the HindIII (intron 19) and XbaI (intron 22) polymorphic sites (PSs) in the FVIII gene were very similar in the two populations studied, but different for the intron 13 (CA)n repeat. Significant variations in the TaqI (intron d) and DdeI (intron a) polymorphisms of the FIX gene were evident between the Russian and Asian populations. Two unusual alleles (4·35 and 4·2 kb) for the extragenic PS St14/TaqI were registered in Slavs and one new allele (380 bp) for the DdeI polymorphic site of FIX was discovered in both Asian populations. Altogether, 210 haemophilia A (HA) and 24 haemophilia B (HB) families were subjected to molecular studies. So far, 160 HA and 12 HB families have been found to be informative for DNA analysis. Carrier status was ascertained in 42 HA and 6 HB female relatives, and rejected in 52 and 10 of them, respectively. The origin of some HA and HB mutations was traced with relevant polymorphic markers in several at-risk families. Prenatal diagnosis was accomplished in 28 HA and three HB families, resulting in the identification of 20 affected male fetuses. 相似文献