Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum

The polymerase chain reaction (PCR) was used on material from a blighted ovum to confirm indirectly the carrier status of a woman with a family history of Becker muscular dystrophy. Conventional testing including creatine kinase levels, muscle biopsy, and EMG had been inconclusive, and on the basis of one elevated creatine kinase level, the woman had been designated a possible carrier. Ultrasound examination at 10 weeks of pregnancy indicated a blighted ovum, from which DNA was subsequently extracted and subjected to PCR testing for determination of sex and genotypic status with respect to the known familial deletion of the dystrophin gene. The blighted ovum was found to have a Y chromosome and also to be deleted for at least exon 6 of the dystrophin gene, indirectly indicating that the mother most likely carried the family mutation for Becker muscular dystrophy.     

Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)

The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.     

Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease

Ten-ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR). Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo-nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta-F₅₀₈ deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls. In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta-F₅₀₈ primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify. The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR.     

Prenatal screening and diagnosis of neural tube defects in England and Wales in 1985

A survey was carried out to determine the effect of prenatal screening and therapeutic abortion on births in 1985 with anencephaly and spina bifida in England and Wales. Maternal serum alpha-fetoprotein tests were done on 399 288 women (60 per cent of pregnant women): 4 per cent were reported as being screen-positive and 1 per cent had an amniocentesis. An estimated 534 pregnancies associated with anencephaly were terminated and an estimated 445 pregnancies associated with spina bifida (but without anencephaly) were terminated. Most (63 per cent) of the anencephalic pregnancies were first suspected from an ultrasound examination; 57 per cent of the spina bifida pregnancies were first suspected from a positive maternal serum alpha-fetoprotein test, 35 per cent by ultrasound, and the remaining 8 per cent by other means. The birth prevalence of anencephaly declined by 94 per cent between 1964–1972 and 1985, but when the terminations of pregnancy on account of having a fetus with anencephaly are added to the births the decline in prevalence was only 50 per cent. The birth prevalence of spina bifida declined by 68 per cent over the same period but when the terminations were added to the births the decline in prevalence was only 32 per cent. Among births with anencephaly 66 per cent had had no screening or diagnostic tests in early pregnancy, but in those that did nearly all were positive–usually in twin pregnancies where one fetus was affected but not the other. Among births with spina bifida, 48 per cent had no tests and in those that did the results were mainly negative. We conclude that in order to monitor adequately the national screening programme for anencephaly and spina bifida a special neural tube defects register should be formed.     

Neural tube defects in trisomy 18

In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.     

The effect of metapleural gland secretion on the growth of a mutualistic bacterium on the cuticle of leaf-cutting ants

In Acromyrmex octospinosus leaf-cutting ants the metapleural glands produce an array of antibiotic compounds that serve as a general defence against unwanted microbes on the cuticle. Leaf-cutting ants also grow mutualistic Pseudonocardiaceae bacteria on their cuticle that produce antibiotics controlling a microfungal parasite of their fungus gardens. Interaction between this bacterium and gland secretion therefore seems unavoidable. We document the typical development of bacterial growth on the cuticle of young major workers, show that growth starts a few days after eclosion, and that the maximal cover is reached after 2–3 weeks and gradually declines when workers mature. Experimental closure of the metapleural glands had no effect on the initial exponential growth phase of the bacterium, but significantly reduced the cover during the decline phase. The age-dependent abundance of the bacterium and its partial dependence on metapleural gland secretion support the hypothesis that the abundance of this mutualist is actively regulated.     

Trace element speciation in selected smelter-contaminated soils in Anaconda and Deer Lodge Valley, Montana, USA

Long-term copper smelting in the Anaconda and Deer Lodge Valley area of Montana has resulted in an extensive area of trace element contamination. Aerial extent of contamination is generally established, but total analysis of soils does not correlate to relative degree of impact on vegetation growth. Three pedons (Beaverell, Cetrack and Judco) were analyzed by routine soil characterization methods, aqua regia microwave digestion, sequential chemical extraction, and X-ray diffraction analysis with the objective of providing a better understanding of chemical forms and potential reactivity of selected trace elements (Cd, Co, Cr, Cu, Hg, Mn, Ni, P, Pb). Surface horizons of soils are more acidic than subsoils, with pH for all horizons ranging from 4.0 to 8.7. Beaverell is the most contaminated in the upper 20 cm with the sum of total extractable (SUM_TE) trace elements by microwave digestion ranging from 1836 to 3605 mg kg⁻¹, largest H₂O-soluble (WS) and exchangeable (EX) fractions (e.g. 1.6 and 9.3%, respectively), and smallest residual (RES) fraction (e.g. 14.3%). Cetrack has greater SUM_TE elements than Judco, though a lower WS+EX fraction due to the effects of alkaline pH, carbonates and high P. Oxide (OX), organic matter/sulfide (OM/S), and RES fractions predominate over WS, EX, and specially-sorbed/carbonate-bound fractions (SS/CAR) for all horizons. Copper, Zn, Pb and Cd are elevated in surface over subsurface horizons in these latter fractions, indicating these elements were anthropogenic additions. X-ray data indicate that Pb, Cu, Cr and Cd partially exists as both OX and sulfide mineral forms.     

Occurrence,functions and biosynthesis of polyamides in microorganisms and biotechnological production

Microorganisms are able to synthesize three different polyamides by enzymatic processes independently from ribosomal protein biosynthesis: poly(gamma-D-glutamic acid), poly(epsilon-L-lysine) and multi-L-arginyl-poly(L-aspartic acid) which is also referred to as cyanophycin. These polyamides, which occur mainly in Bacillus spp. (and only a few other eubacteria and the nematocysts of Cnidaria, in Streptomyces albulus or in cyanobacteria, respectively), have recently attracted considerable interest of the chemical industry and may be suitable for various applications. This review summarizes our current knowledge on the occurrence, biosynthesis, physiological functions, and biodegradation as well as on the properties and putative applications of these polyamides. Emphasis is placed on the enzymology of the polymerization and on the genes encoding the polymerizing enzymes, which have only recently become available for cyanophycin synthetases. Prospects for novel production processes. in particular for cyanophycin, are also presented.     

Influence of conservation tillage on winter bird use of arable fields in Hungary

Bird use of conservation tillage-established (CT—seedbed preparation without soil inversion) crops was assessed at two adjacent sites in western Hungary, in comparison with conventionally established (mouldboard ploughed—P) fields. Bird abundance was assessed in a typical rotation of spring-sown maize and winter wheat in three consecutive winters. In the first winter, several species and the guild of seed-eating passerines were significantly more abundant on CT established plots, in both crop types. In the second winter, only starlings were more abundant on CT plots. In the third winter, only skylarks favoured CT over P plots. In combination with agri-environment scheme measures designed to provide resources for biodiversity, conservation tillage could play a role in softening the impact of agriculture on farmland birds in Hungary and elsewhere in Eastern Europe, in addition to its potential for reducing soil erosion and diffuse pollution.     

重金属在牡蛎(Crassostrea virginica)中的生物积累及其影响因素的研究

牡蛎软体，贝壳和沉积物中Ｃｄ、Ｃｒ、Ｃｕ、Ｆｅ、Ｍｎ、Ｐｂ和Ｚｎ等重金属元素被同步分析研究，研究结果表明，重金属在牡蛎中的生物积累是牡自身的新陈代谢、重金属元素的地球化学性质和环境诸因素综合影响的结果，其中牡蛎斩生理作用对重金属在软体中的积累产生的影响尤为重要，而贝壳中重金属的积累对来自环境的影响更为敏感。