Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

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.     

Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

海水中阴极极化对X80钢应力腐蚀及氢脆敏感性的影响

目的研究不同p H值海水中阴极极化对X80管线钢应力腐蚀及氢脆的抑制作用。方法采用慢应变速率拉伸试验、电化学测试、微观组织观察等分析方法。结果 X80钢在天然海水中的析氢电位约为-940m V(vs.SCE,下同),海水p H为3.5时析氢电位发生正移。其应力腐蚀敏感性与极化电位有很大关系,随着极化电位负移,X80钢的氢脆敏感性增加。天然海水中当极化电位负于-950 m V时,断口出现准解理断裂特征形貌。在-1050 m V极化电位下,钢材进入氢脆断裂区发生脆性断裂。海水p H为3.5时,-900 m V钢材有发生氢脆的危险。结论与天然海水相比,X80钢在p H为3.5的酸性海水中具有较高的应力腐蚀敏感性,两种海水介质中X80钢的应力腐蚀敏感性均随极化电位负移而增加。     

Limb reduction and chorion villus sampling

Upper limb reduction was diagnosed by ultrasound scan at 17 weeks after chorion villus sampling at 9 weeks' gestation. Pregnancy was terminated and necropsy confirmed limb reduction in an otherwise normal fetus. The relationship of limb reduction to amniotic band syndrome is discussed.     

Influence of chlorsulfuron herbicide on size of microbial biomass in the soil

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模拟消落带水华暴发行为的数值沙堆模型

以长江最大支流汉江近年来水华污染的现场资料为例,通过氮磷浓度、水温、流速和光照等实测数据构建了消落带开放水域环境体系的数值沙堆模型,描述了藻类生长及水华暴发的动力学机制;利用数值沙堆系统崩塌行为反映出的频率-尺度幂律关系作为判断消落带水域是否暴发水华以及规模大小的依据,采用有限尺度标度分析从不同侧面验证了水华暴发系统的自组织临界性,并揭示出各种拟合参数与水华暴发规模之间的定量关系.研究表明,沙堆模型如果存在良好的幂律关系,相应的消落带水域将暴发水华,且幂律指数越大,水华污染程度越严重.     

Petro-chemical wastewater treatment by biological process

Ｉｎｔｈｅｃｏｕｒｓｅｏｆｏｉｌｒｅｆｉｎｉｎｇ,ｏｒｇａｎｉｃｗａｓｔｅｗａｔｅｒｗｉｔｈｈｉｇｈｃｏｎｃｅｎｔｒａｔｉｏｎｏｆｅｍｕｌｓｉｆｉｅｄｏｉｌａｎｄｐｈｅｎｏｌｉｓｐｒｏｄｕｃｅｄ,ｓｏｆａｒ,ｔｈｅｍｅｔｈｏｄｓｏｆｐｈｙｓｉｃｏｃｈｅ?..     

On the study of ecosystem health:state of the art

ＩｎｔｒｏｄｕｃｔｉｏｎＤｕｒｉｎｇｌａｓｔｄｅｃａｄｅｓ,ｔｈｅｔｅｒｍ“ｅｃｏｓｙｓｔｅｍｈｅａｌｔｈ”ｉｓｕｓｅｄｗｉｔｈｉｎｃｒｅａｓｉｎｇｆｒｅｑｕｅｎｃｙｉｎｔｈｅｌｉｔｅｒａｔｕｒｅ.Ｔｈｅｇｒｏｗｉｎｇｉｎｔｅｒｅｓｔｓｉｎｔｈｅｓｔｕ...     

Stipulation of the criteria for the construction of eco agricultural county in China

ＩｎｔｒｏｄｕｃｔｉｏｎＮｏｗｗｅａｌｌｃｏｎｃｅｒｎｏｕｒｓｅｌｖｅｓｗｉｔｈｔｈｅｃｏｎｔｅｍｐｏｒａｒｙｐｒｏｂｌｅｍｓｏｆｏｖｅｒｐｏｐｕｌａｔｉｏｎ,ｒｅｓｏｕｒｃｅｅｘｐｌｏｉｔａｔｉｏｎ,ｅｎｖｉｒｏｎｍｅｎｔａｌｐｏｌｌｕｔｉｏｎａｎｄ...     

45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones

Amniocyte clones from a mid-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.