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1.
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
2.
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
3.
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
4.
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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植物遗传资源保护与利用的市场化机制和国际制度 总被引:9,自引:0,他引:9
随着植物物种资源的不断减少和因生物技术迅猛发展对植物遗传资源需求的不断增加 ,植物遗传资源正逐步由公共物品转变为稀缺物品。坚持《生物多样性公约》所确立的遗传资源效益公平分享原则 ,完善现有国际多边体系 ,促进以“遗传编码功能”价值概念和遗传资源保护效应“内部化”与“补偿”方案为基础的植物遗传资源市场化保护与利用机制的形成 ,建立“植物遗传资源交易所”和“生物多样性合作社” ,将有助于提高世界各国尤其是发展中国家保护植物遗传资源的积极性 ,实现全球植物遗传资源的可持续利用 相似文献
7.
论DNA分子标记在家畜遗传多样性保护中的应用 总被引:1,自引:0,他引:1
本文就DNA分子遗传标记在家畜遗传多样性保护中应用的可行性及途径进行了探讨,提出了家畜遗传多样性标记辅助保护新策略。 相似文献
8.
本文从岩相岩石学特征、地球化学演化,讨论了凝灰熔岩、碎斑熔岩、花岗斑岩三者之间的成因联系:它们是同源岩浆经分异结晶,形成岩浆房成分梯度和分带后,分别代表岩浆房从上到下不同部位成分岩浆依次侵位、在不同成岩条件下形成的一套岩石,可建立“三位一体”成岩模式. 相似文献
9.
菲尔德斯半岛出露一套第三纪岛孤火山岩,包括高铝玄武岩、玄武安山岩、及少量安山岩与英安岩,从早到晚可划分为碧玉山段、玛瑙滩段、化石山段和岩块山段四个岩性段.它们属于同一钙碱性岩浆演化系列,其中高铝玄武岩是其它火山岩的母岩.高铝玄武岩的形成过程可分两个阶段:首先是上地幔楔经过20~25%的部分熔融生成原生橄榄拉斑玄武质岩浆,然后原生岩浆再经40%的矿物分离结晶作用(其中橄榄石占30%,单斜辉石占70%)而分异形成高铝玄武岩浆. 相似文献
10.
Fifty-three patients who elected to reduce their pregnancies to a twin gestation in our centre are known to have subsequently undergone genetic amniocentesis. Five of these patients lost their entire pregnancy following the genetic amniocentesis procedure. This is equivalent to a 9·4 per cent pregnancy loss rate for reduced twin gestations in comparison with an expected loss rate of 2 per cent for non-reduced twin gestations. 相似文献