Cytogenetic analysis of chorionic villi: a technical assessment

Summary Eighty-five samples of chorionic villi from women undergoing prenatal diagnosis at 8 to 12 weeks' gestation were subjected to cytogenetic analysis. Samples were prepared by a direct technique that permits limited analysis within two hours and by a short-term culture technique that permits detailed structural analysis within one week. An adequate number of cell divisions for cytogenetic analysis was obtained from 96% of living fetuses. Using both the direct technique and short-term culture, satisfactory banded chromosomal preparations were made in 93% of cases. Eleven of 12 pregnancies (92%) shown by ultrasound to be dead shortly before sampling, had cytogenetic abnormalities. Further studies are needed to develop banding definition equivalent to that available on cultured amniocytes.     

Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.

Altered folate metabolism has been suggested as a possible reason for expression of the fragile X chromosome in low-folate medium. However, there were no significant differences in the total folate content or in the distribution of folate cofactors between fibroblasts from patients with the fragile X chromosome and those of controls both before and after a period of folate starvation. Fragile X and control fibroblasts lose folate at an equivalent rate. Insofar as folate content and distribution reflect a primary abnormality of folate metabolism, there appears to be no such abnormality in the fragile X syndrome.     

Fetal mortality at the time of chorionic villi sampling

Summary To estimate the background fetal loss rates among women who might be candidates for chorionic villi sampling (CVS) for prenatal diagnosis, we examined the frequency of spontaneous abortion and of non-viable fetuses in two groups of women thought to be pregnant at 8–12 weeks' gestation. Among 1519 women over 35 years given an appointment for amniocentesis 1978–1981, 9.8% had a spontaneous abortion prior to 16 weeks' gestation. For those under observation before week 12, the loss rate by 16 weeks was 15.3%. Among all 190 candidates for elective termination of pregnancy between 6 and 12 weeks' gestation, 12.6% were found to have a non-viable fetus at the scheduled date of abortion. The frequency of non-viability was 14% among those seen before week 12. The data suggest that the background loss rate between the time of CVS and the time of amniocentesis is approximately 1–2% and is unlikely to be higher than 9%. Until randomized clinical trials of the procedure are completed we will not know how much, if at all, the loss rate associated with CVS is increased above this background. Nevertheless, knowledge of these background risk estimates may be useful in counseling women considering participating in trials of CVS.     

Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1

We have used a set of markers newly assigned to the proximal portion of mouse chromosome 1 to characterize the chromosomal segment deleted in the splotch-retarded (Spr) mouse mutant. Among nine markers tested in the heterozygote Spr/+mouse, we have identified four genes, Vil, Des, Inha, and Akp-3, which map within the Spr deletion. The closest distal marker to the deletion is the Acrg gene, with the distal deletion breakpoint mapping within the 0.8-cM segment separating Akp-3 and Acrg. The most proximal gene to the Spr deletion is Tp1. The proximal deletion breakpoint maps within the 0.8-cM segment separating Tp1 and Vil. The minimum size of the Spr deletion would therefore be limited to 14 cM, the genetic distance between Vil and Akp-3. The maximum size of the Spr deletion is estimated to be 16 cM, the genetic distance between Tp1 and Acrg.     

Italian weedy rice—A case of de‐domestication?

Weedy rice is a representative of the extensive group of feral weeds that derive from crops, but has returned to the lifestyle of a wild species. These weeds develop either from a hybridization of crops with wild relatives (exoferality), or by mutation of crops to weedy forms (endoferality). Due to the close relation of weed and crop, the methods for weed‐targeted containment are limited to date. A deeper understanding of the development of such weeds might help to design more efficient and sustainable approaches for weed management. Weedy rice poses a serious threat to rice yields worldwide. It is widely accepted that weedy rice has originated independently in different regions all over the world. However, details of its evolution have remained elusive. In the current study, we investigated the history of weedy rice in northern Italy, the most important rice‐growing area in Europe. Our approach was to analyze genes related to weedy traits (SD1, sh4, Rc) in weedy rice accessions compared to cultivars, and to integrate these results with phenotypic and physiological data, as well as historical information about rice farming in Italy. We arrive at a working model for the timeline of evolution of weedy rice in Italy indicating that both exoferality and endoferality acted as forces driving the development of the diverse weedy rice populations found in the region today. Models of weed evolution can help to predict the direction which weed development might take and to develop new, sustainable methods to control feral weeds.     

Modeling the circular economy in environmentally extended input–output: A web application

Global environmental and resource problems ask for new ways of managing the production and consumption of resources. The implementation of new paradigms, such as the circular economy, requires decision‐makers at multiple levels to make complex decisions. For this, clear analyses and modeling of scenarios are of utmost importance. Meanwhile, as the sophistication of databases and models increases so does the need for user‐friendly tools to use them. The RaMa‐Scene web platform reduces these barriers by allowing users to visualize easily diverse impacts of implementing circular‐economy interventions. This online web platform makes use of the multi‐regional environmentally extended input–output database EXIOBASE version 3 in monetary units, which has been modified to show explicit transactions of raw materials from recycling activities.     

Linkage Maps of Lowland and Upland Tetraploid Switchgrass Ecotypes

Switchgrass (Panicum virgatum L.) is a native perennial warm season (C₄) grass that has been identified as a promising species for bioenergy research and production. Consequently, biomass yield and feedstock quality improvements are high priorities for switchgrass research. The objective of this study was to develop a switchgrass genetic linkage map using a full-sib pseudo-testcross mapping population derived from a cross between two heterozygous genotypes selected from the lowland cultivar ‘Alamo’ (AP13) and the upland cultivar ‘Summer’ (VS16). The female parent (AP13) map consists of 515 loci in 18 linkage groups (LGs) and spans 1,733 cM. The male parent (VS16) map arranges 363 loci in 17 LGs and spans 1,508 cM. No obvious cause for the lack of one LG in VS16 could be identified. Comparative analyses between the AP13 and VS16 maps showed that the two major ecotypic classes of switchgrass have highly colinear maps with similar recombination rates, suggesting that chromosomal exchange between the two ecotypes should be able to occur freely. The AP13 and VS16 maps are also highly similar with respect to marker orders and recombination levels to previously published switchgrass maps. The genetic maps will be used to identify quantitative trait loci associated with biomass and quality traits. The AP13 genotype was used for the whole genome-sequencing project and the map will thus also provide a tool for the anchoring of the switchgrass genome assembly.