DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL,CLN1)

Eleven fetuses at risk for the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) were studied using DNA markers and the results were compared with the results of electron microscopy (EM) of chorionic villus specimens from pregnancies in the first or early second trimester of pregnancy. In four cases, the prenatal diagnosis was made independently with both methods, and in seven cases, the EM diagnosis was confirmed postnatally or from autopsy material using RFLP analysis. The two methods gave concordant results in all cases. The DNA analysis based on RFLP haplotypes also for the first time facilitates reliable carrier diagnostics. RFLP analysis based on polymorphic markers closely linked to the INCL locus is now available for prenatal diagnosis of this fatal brain disease, whose biochemical background is totally unknown and for which no treatment is available.     

寡核苷酸探针LZF－I进行两栖类DNA指纹分析的初步研究

利用寡核苷酸探针ＬＺＦ－Ｉ对两栖类的３属８种２８只个体的冷冻和甲醛固定的肝组织作了检测．所获ＤＮＡ指纹图在个体、种和属间具有特异性．表明该探针进行ＤＮＡ指纹检测可为两栖动物种、属分类提供依据．     

佛坪三官庙地区大熊猫种群数量的DNA指纹分析

应用同位素标记大熊猫基因指纹探针Ｆ２ＺＧＰ９６０６０８０１，以秦岭南坡中段佛坪国家级大熊猫自然保护区三官庙范围内采集的大熊猫粪便样品作材料，进行了ＤＮＡ指纹检测．（１）在相同或不同时间、领域采得的粪便样品，显现出相同或不同的ＤＮＡ指纹图谱，达到个体认定的目的，进一步表明了大熊猫的尽量新鲜的粪便，可以作为ＤＮＡ指纹分析材料，进行野生种群数量调查．（２）根据检测２１个粪便样品的结果，无误地认定了三官庙地区有１３只大熊猫个体．其中有３个家系．（３）大熊猫粪便样品的ＤＮＡ指纹图，通过微机识别的个体数，准确可靠，能获得大熊猫在野外的真实个体数量．     

Mating in bighorn sheep: frequent male reproduction via a high-risk “unconventional” tactic

Rocky Mountain bighorn rams use three distinct tactics in competition for mates. Two tactics (tending and blocking) feature defense and cooperative mating over a relatively prolonged consort period (up to 3 days). In the coursing tactic, subordinate rams fight dominants for temporary copulatory access (lasting seconds) to defended ewes. By combining population-wide genetic (microsatellite) exclusion of paternity, behavioral data and a model of bighorn reproductive competition, we estimated that coursing rams fathered 44% of 142 lambs assigned paternity in two natural populations. In one population, the probability of successful defense against coursing was lowest among rams that had many female consorts and held highest dominance rank. Even so, per capita annual male reproductive success was positively associated with social rank in both herds when measured in terms of fall conceptions. The proportion of coursing versus defending ram matings in each population (0.36 and 0.39) was similar to the corresponding fraction of lambs (0.43 and 0.47) fathered by coursing rams, suggesting that sperm competition approximated a fair lottery. Male traits important in gaining social status and obtaining cooperative consorts with ewes were different and potentially in conflict with those needed to defend against (and practise) coursing. Although the concussive weapons (horns) of rams are less dangerous than, for example, the piercing weapons of other bovids, injury from falls and horn blows during coursing brawls may cause death, handicap future mating competition or increase the risk of predation. Coursing is a rare example of an unconventional alternative mating tactic that is high-gain and high-risk. Received: 17 April 1996 / Accepted after revision: 15 March 1997     

Differential use of stored sperm during oviposition in the damselfly Calopteryx splendens xanthostoma (Charpentier)

Female Calopteryx splendens xanthostoma (Charpentier) (Odonata), have two discrete sperm storage organs, the bursa copulatrix and the paired spermathecae. We used the Random Amplified Polymorphic DNA(RAPD) profiling technique to determine from which sperm storage organ spermatozoa were used to fertilise eggs during behaviourally distinct oviposition bouts. During oviposition bouts following remating sperm from the bursa copulatrix are largely used to fertilise eggs, but when females avoid remating before an oviposition bout the sperm used to fertilise eggs are derived mainly from the paired spermathecae. Our observations suggest that female C. s. xanthostoma can avoid male paternity assurance mechanisms by a combination of behavioural and anatomical adaptation: the reason(s) they do so is unclear. Received: 28 November 1995/Accepted after revision: 5 August 1996     

对化学品登记要求的数据解释：皮肤致敏重复染毒及致变

本文对化学品登记所要求的部分健康效应数据——皮肤致敏、重复经口染毒、致变做了解释.涉及到的测试参数包括:皮肤致敏、重复(14/28天)经口啮动物毒性、基因突变、染色体畸变和DMA效应.     

一种经济、简单的微生物基因组DNA的提取方法

获得一定浓度和纯度的DNA是进行分子生物学研究的基础。破解细胞壁与细胞膜是获得基因组DNA的前提，而蛋白质和核酸物质的分离是获得高质量DNA产物的关键。目前，主要采用的破壁方法有：冷冻研磨法、溶菌酶法、EDTA测等，这些方法一般采用复杂的裂解液体系，并借助蛋白酶K和RNA酶的帮助来获得高质量的抽提产物。由于细胞裂解体系不仅配制十分麻烦，而日部分药品有毒操作危险性大，此外部分药品及相关酶试剂价格昂贵。本文充分利用DNA在不同温度下自身可变性与复性的特性和在高盐与高温条件下蛋白质能够变性并沉淀。以无菌的SDS（c／c=20％）和NaCl（c/c=8％）的混合液作裂解体系，在沸水浴中破壁膜并使得部分的蛋白质变性和DNA变性并得到初步分离；随后在60℃和72℃水浴中使变性的DNA复性和重新凝聚，同时让RNA、蛋白质和细胞壁碎片等杂质降解或沉淀，从而获得高质量的DNA产物。     

黄鳝野生群体和养殖群体遗传结构的RAPD分析

采用RAPD标记技术对黄鳝野生群体和养殖群体遗传结构进行初步研究.用24个随机引物在野生群体和养殖群体中分别扩增出259和251条DNA片段,其中多态性片段数分别为116和92条,多态性片段的比例分别为44.79%和36.65%,平均杂合度分别为0.2155和0.1908,遗传相似率分别为0.9053和0.9583,群体间遗传相似率为0.8863.而Shannon遗传多样性指数表明,两群体中的遗传变异有81.51%来自群体内,只有18.49%来自群体间.野生群体的多态性位点比例和杂合度明显高于养殖群体,说明黄鳝野生种质资源状况较好,应加以合理保护.与野生群体相比,养殖群体的杂合度和遗传多样性有所下降,提示在黄鳝的人工繁殖过程中应引进标记辅助选择等技术手段.图1表3参24     

低浓度阿特拉津长期暴露对鲫鱼DNA的影响

运用随机扩增多态性DNA(RAPD)技术在分子生物学水平上评价了低浓度阿特拉津长期暴露对鲫鱼DNA的影响.结果表明:0.006mg·L-1以上浓度(试验浓度系列为0.006、0.023、0.094、0.375、1.5、3mg·L-1)的阿特拉津持续暴露60d均会对鲫鱼的DNA产生影响;经筛选,确定有34条引物能够扩增出鲫鱼基因组DNA,其中有8条引物能检测出阿特拉津对鲫鱼基因组DNA影响的差异:各浓度组鲫鱼DNA的RAPD扩增产物条带均出现不同程度缺失;在较低浓度长期暴露下阿特拉津对鲫鱼基因组DNA的损伤无明显的剂量-效应关系,阿特拉津毒性在0.375mg·L-1时突然增强,但这一趋势并未向更高浓度组延续(1.5mg·L-1组表现出的毒性弱于0.375mg·L-1组和3mg·L-1组).