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Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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长江流域的昆虫病毒资源及其开发利用 总被引:1,自引:0,他引:1
在长江流域已发现约130种昆虫病毒,其中多数属杆状病毒科。昆虫病毒作为杀虫剂在本地区广泛应用,防治棉花、森林、茶树、蔬菜和牧草上的害虫,克服了化学农药的一些缺点,取得了良好的生态效益和经济效益。近年来还进行了杆状病毒表达载体的研究,该系统的研制已用于高水平表达具有生物活性的外源基因产物,获得医药产品,或者组建更有效的基因工程病毒杀虫剂。 相似文献
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Alan R. Thornhill John A. McGrath Robin A. J. Eady Peter R. Braude Alan H. Handyside 《黑龙江环境通报》2001,21(6):490-497
Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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通过滇池鲤鱼与松花坝水库和国内外同类鲤鱼的元素含量对比,确认滇池鲤鱼受工业污水的危害影响主要是As、Se。鱼体As、Se含量目前已经超过正常值,Ni、Cr、Cu、Fe、Pb比正常值偏低,其它元素属正常值范围。为了避免过多的元素富集,建议滇池鲤鱼以半年到一年为生长捕捞期为宜。 相似文献
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Cardiac anomalies may occur in isolation or can be part of a genetic syndrome. In this article, we describe some of the genetic syndromes commonly associated with cardiac anomalies where there are other sonographic features that may aid accurate prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
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目的加快橡胶减振器的设计过程。方法分析橡胶材料及Mooney-Rivllin橡胶本构模型特点,介绍橡胶减振器应用特点及隔振设计的相关理论,采用Mooney-Rivllin模型模拟橡胶材料的力学特性,通过引进有限元优化技术,在设计初期保证减振器的刚度特性。结果在某设备减振设计中,采用单轴拉压曲线获取了橡胶材料的Mooney-Rivllin模型参数,以减振器的部分结构尺寸为设计参数,减振器的三向刚度为设计目标,获取了三轴向频率近似相等的隔振系统(轴向频率40 Hz、径向频率40.9 Hz)。通过试验测试,减振系统频率与试验值差别较小,其中轴向差别为2%,径向差别为1%。结论通过引进有限元优化技术,采用合理的橡胶本构模型,可以满足工程精度要求,加速了橡胶减振器的设计过程。 相似文献
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对螯合树脂在线富集,火焰原子吸收光度法进行了条件试验。试验证实方法对Cu、Pb、Zn、Cd4个元素检出浓度可达μg/L级,校准曲线性、样品重现性及准确度可满足测定要求。 相似文献