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。     

高灵敏XRF测定废水中痕量砷

本文提出了在硫酸介质中，以锌粒还原产生氢化物，溴化铜溶液吸收，微孔滤膜过滤制成薄样，Ｘ射线荧光测定水中痕量砷的分析方法。     

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

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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...     

太湖梅梁湾水体中可见光的衰减、吸收及散射

对太湖梅梁湾沿岸带和敞水区的水体进行了光学特性研究。结果发现，沿岸带的水下光辐射衰减系数(Kd)值较敞水区小；400nm与500nm向上辐照度比值(Eu440／Eu550),沿岸带在1m左右最小,敞水区在0．5m左右最小;沿岸带的水面下向上辐照度与向下辐照度的比值(R)低于敞水区：440、550、670nm的后向散射与吸收的比值(b／a),在沿岸带的1m处最大,敞水区在0．5m处最大。这些结果说明,相对于敞水区而言,沿岸带的光衰减较弱,无机悬浮颗粒的含量较少,最大叶绿素a分布较深。     

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.