Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

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.     

Towards a planning support system for environmental management and agri-environmental measures--the Colorfields study

The authors present the beginnings of a planning support system (PSS) for agri-environmental measures exemplified by a virtual implementation of Colorfields and blooming strips on model farms, based on real-world data. This paper starts with an introduction to the Colorfields, a concept for transdisciplinary and sustainable landscape design of set-aside land. Colorfields comprise of blooming strips of flowering annual or biennial plants, which are designed and drilled in pattern on fallow land creating Land Art. The temporary scenic arrangements of the Colorfields combine the advantages of ecological strips, e.g. providing habitats for insects (especially bees), improving soil fertility through the cultivation of intercrops, with improvements of the social recognition of farmers as producers of pleasant landscapes instead of monoculture fields.The prototype of the PSS uses two software tools of different scientific origin, the bio-economic modeling system MODAM and the landscape visualization system Lenné3D, which are linked based on geo-data. The resulting system helps to assess the economic effects and visualizes the effects of the specific landuse patterns under different scenarios.The economic assessment of blooming strips on arable land and of one Colorfield on fallow land shows that these measures prove to be profitable from an economic viewpoint assuming the current area payments for the obligatory European Union set-aside program. Furthermore, the visualizations enable the design to be tested virtually by exploring the resultant scenery. They provide artists, planners and stakeholders including farmers with a tool to virtually wander through landscape scenarios supporting a collaborative design and a shared vision for the community.The results of the two model farms and previous case studies for Colorfields demonstrate how current policy conditions could be used for the improvement of environmental and scenic qualities. Furthermore, the ability of the tools, MODAM and Lenné3D, suggests to support and promote these activities.     

中国可持续发展综合评价研究

可持续发展作为一个动态、开放的复杂巨系统。人口、资源、经济、环境和科技构成了其关键要素。本文基于PREEST系统模型。首先提出了一套中国可持续发展综合评价指标体系：同时。借助于主成分分析法和隶属度分析法。就中国1987～2001年度的综合发展指数与协调发展指数进行了实证分析；最后。基于研究成果。对中国未来的可持续发展提出了若干政策建议。     

Population Ageing and Sustainable Development Research in China

According to the United Nations population projections, the population of the elderly is expected to roughly triple in China from 2000 to 2050, particularly when the generations who were born between the 1950s and 1970s move through the age structure, and also because people are living longer and fertility rates have fallen, population aging is expected to put pressure on government's fiscal balance through higher old-age security benefits and health-care expenditures. This work draws together the broad range of elements involved within a consistent framework, based on a computable dynamic general equilibrium model with an overlapping generation structure. Further analysis using model simulation illustrates that the alternative schemes for the benefit rate, retirement age and technological progress are likely to be beneficial, and that an obvious slow-down in the growth of living standards is likely to be avoided.     

Exoautometabolic regulation of transgenes in microorganisms

Data on the existence of a specific system regulating the growth, size, and structure of enterobacterial populations are first summarized in terms of the chemical ecology concept formulated by S.S. Shvarts. The role of this system in transgene functioning is described using the example of the lux operon integrated into Escherichia coli. A relatively simple test for estimating such interactions is proposed.Translated from Ekologiya, No. 2, 2005, pp. 91–96.Original Russian Text Copyright © 2005 by Pshenichnov, Maslennikova, Nikitina.     

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd.     

Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15

We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was incidentally found during the routine obstetric ultrasound scan at 20 weeks' gestation. Amniocentesis was undertaken and the fetal karyotype was found to be 46,XY,r(15) on cytogenetic study. Fluorescence in situ hybridization (FISH) using a telomeric probe of chromosome 15 demonstrated a terminal deletion on the q arm of the ring-shaped chromosome 15. This is the first report of a prenatally diagnosed case of ring chromosome 15. Moreover, nuchal fold thickness in the second trimester may have a role in its prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.