Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination

We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11–12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2½ months. The parents were both known to be carriers of the ΔF508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the ΔF508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre-eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth.     

利用微生物检测环境有机化合物的致突变性

运用微生物检测致突变性的方法有很多种，一般都是简便，快速，灵敏，并且样品用量较少，非常适合检测环境有机化合物的致突变性或潜癌性，如果同时用几种方法，则更有说服力，本文介绍了Ａｍｅｓ试验，微量向前突变法和ＳＯＳ显色试验，以及它们的应用实例。     

柴油车尾气的致突变作用

用大鼠肝细胞悬液程序外ＤＮＡ合成试验（ＵＤＳ），来检测５种柴油机颗粒物的致突变活性，结果显示国产及进口的轻、中、重型柴油机，其排出颗粒提取物均能引起大鼠肝细胞ＵＤＳ试验的ＣＰＭ值升高，且有一定的剂量－反应关系，说明柴油机排出的颗粒提取物存在细胞遗传毒性；各牌号比较发现其颗粒物致突变性的轻型车大于中、重型车，国产车大于同类进口车的趋势。     

抗真菌多肽——捷安肽素高产菌的选育

从新疆棉株上分离得到一株细菌ZK ,经培养物性状和生理生化鉴定 ,确定该菌为芽孢杆菌属 (Bacillussp.)菌 ,其代谢产物为一种抗病原真菌的肽类物质———捷安肽素 .以此株菌作为出发菌株 ,进行紫外线、微波和亚硝基胍诱变 ,诱变处理后获得高产突变株Mv2 8,在摇瓶试验中 ,该变异株产捷安肽素活性比出发菌株提高 31.6 % .图 5表 5参 12     

Ames试验法对阴离子合成洗涤剂安全性的评价

合成洗涤剂能否引起基因突变，有无潜在危害，已引起人们的彬大关注，我们对成都产合成洗涤剂厂生产的双猫牌洗衣粉进行了Ames试验，结果表明，不同浓度的洗涤剂对TA98，TA102每组菌株的回变菌落数均未超过对应溶剂对照回变菌落数的2倍，说明双猫牌洗衣粉在受试浓度下，对所用菌株无诱变活性，即未发现该产品具有致突变作用。     

斑马鱼及其胚胎在毒理学中的实验研究与应用进展

作为一种模式生物,斑马鱼具有很多其他模式生物所不具备的优点,已被广泛应用于生物学各领域,具有十分广阔的发展前景.论文首先介绍了斑马鱼的基因组学,包括正向遗传学、反向遗传学以及斑马鱼在药物研发和人类疾病研究中的应用;其次就斑马鱼在发育生物学中的应用进行了概述;最后,介绍了斑马鱼在毒理学各方面(急性毒性、内分泌干扰、发育毒性、神经毒性、血管研究和癌症研究)的应用进展.     

Molecular diagnosis of a novel heterozygous 268C→T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis

We report the sonographic diagnosis and molecular analysis of holoprosencephaly (HPE) and premaxillary agenesis in a second-trimester fetus with a 46,XY karyotype. Mutational sequence analyses for the entire coding region and exon–intron boundaries of SHH, ZIC2, SIX3 and TGIF genes identified a novel heterozygous missense TGIF mutation 268C→T (CGC→TGC change) that predicts an Arg90Cys substitution in the homeodomain region of TGIF. The proband's parents did not carry the mutation. The present case is an example of the heterogeneous entity of the HPE spectrum and demonstrates that adjunctive molecular analyses of distinct human genes for HPE can reassure genetic counselling by elucidating the genetic pathogenesis, especially in cytogenetically normal fetuses affected with HPE. Copyright © 2002 John Wiley & Sons, Ltd.     

廊坊市近50年气温的时空变化特征

采用1964—2013年廊坊市9个气象站的气温观测资料,分析廊坊市日平均气温、日最高气温、日最低气温的时空变化特征,并利用Morlet小波变化和Mann—Kendall突变检验等方法对廊坊市日平均、日最高、日最低气温进行周期分析和突变检验。结果表明:(1)平均气温、平均最高气温、平均最低气温和高温极值变暖趋势显著,年际增长率分别为0.38℃/10a、0.28℃/10a、0.38℃/10a、0.36℃/10a;(2)平均气温、平均最高气温、平均最低气温、高温极值、低温极值和高温日数均具有4~6a的短周期、9a的较长周期和一个年代际的长周期;(3)20世纪80年代中期到90年代中期平均气温、平均最高气温、平均最低气温、高温极值、低温极值和高温日数均存在一个显著突变;(4)平均气温、平均最高气温、平均最低气温、高温极值、低温极值和高温日数在空间分布上均呈现南高北低趋势。