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.     

Molecular taxonomy of vestimentiferans of the western Pacific and their phylogenetic relationship to species of the eastern Pacific

The nucleotide sequence of part (624 bp) of a mitochondrial gene for cytochrome oxidase I was determined for 46 escarpiid vestimentiferans collected from seven sites in the western Pacific and 49 individual specimens of Arcovestia ivanovi from two sites in the Manus Basin. Phylogenetic analysis, based on the newly obtained and previously reported sequences, indicated that escarpiids in the western Pacific can be divided into two tentative species, as we proposed in a previous report. While members of the first tentative species have been collected exclusively from a seep area at a depth of 300 m off the coast of central Japan, the members of the second species inhabit some sites at depths greater than 1,100 m, namely, seep areas in Japanese and Papua-New Guinean waters as well as hydrothermal vent fields in the Okinawa Trough and the Manus Basin. We detected no genetic structure among populations of the second tentative species. The first tentative species was more closely related to a species in the eastern Pacific, Escarpia spicata, and to a species in the Gulf of Mexico, Escarpia laminata, than to the second tentative species in the western Pacific. Sequences obtained from all arcovestiids were identical with the exception of those from three individuals, each of which included a single synonymous nucleotide substitution relative to the dominant haplotype, and no genetic differences were detected between specimens from the two sites in the Manus Basin.     

Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Biological monitoring of particulate pollutants during exploration work at a niobium mineralization in Greenland

The purpose of this investigation was to monitor airborne dipersion of particulates in connection with exploration activities at a niobium-mineralization in the Sarfartoq area, SW Greenland, during the summer of 1989, and to provide a basis for monitoring strategies in later phases of the development of the mining site. During three periods moss bags were exposed at 9 stations close to the outcrop and at 3 background stations, and indigenous lichens and mosses were sampled before and after the exploration work.Analyses of element concentrations showed that the natural enrichment of elements in the indigenous vegetation is restricted to areas immediately at or on the outcrop. The elements found in elevated concentrations were Nb, La, Ce, Th and U.The moss bags and the indigenous monitor organisms showed rises in concentrations of the elements Nb, Ce, Cd, Pb and Zn after the exploration activities during the summer. This shows that some dispersion of dust has occurred in the area.     

Role of vitamin A in the haematotoxicity of hexachlorocyclohexane (HCH) in the rat.

The haematotoxicity of technical hexachlorocyclohexane (HCH) (1000 ppm) was investigated in male albino rats fed with diet free of vitamin A or containing vitamin A at 2000 or 10(5) I.U./kg. Assessment of HCH-induced haematotoxicity at the end of the 7 weeks feeding period was done on the basis of haemoglobin content, total count of red blood cells and white blood cells and the differential counts of the white blood cells as well as by parameters such as packed cell volume, mean corpuscular volume, mean corpuscular haemoglobin, mean corpuscular haemoglobin content, prothrombin time and clotting time. In the rats fed with vitamin A-free diet containing HCH, significant reductions were noticed in the total white blood cells count, clotting time and prothrombin time indicating severe haematotoxicity. Differential count of the white blood cells of these rats revealed a non-significant reduction in the lymphocyte count. The only indication of haematotoxicity caused by hexachlorocyclohexane in the vitamin A supplemented rats was a slight but statistically significant reduction of the total count of white blood cells. These results demonstrate that the haematotoxicity of hexachlorocyclohexane in the rats is enhanced by vitamin A-deficiency and its supplementation particularly in excess but not at hypervitaminotic level is protective against the toxicity.     

Composition of Floating Debris in Harbours of the United States

As part of a programme to characterize floating anthropogenic debris in the aquatic environment, the US Environmental Protection Agency (EPA) conducted 18 field surveys in the harbours of major metropolitan cities of the east, west, and Gulf coasts of the United States and the Mid-Atlantic Bight. the surveys were designed to provide information on the types, relative amounts, and distributions of aquatic debris in different geographic regions of the United States. Neuston nets (0.33 mm mesh) were used to collect surface debris during outgoing tides on two or three consecutive days in selected areas of each city. After each net tow, the debris, which ranged in size from small resin pellets to large plastic sheeting pieces, was identified, categorized, and counted. the data are being used to qualitatively characterize aquatic debris in coastal metropolitan areas, to examine potential regional variations, and to tentatively identify potential sources.     

Postfledging Dispersal of White-crowned Pigeons: Implications for Conservation of Deciduous Seasonal Forests in the Florida Keys

From 1988 to 1991, we studied the postfledging dispersal of 31 radio-tagged White-crowned Pigeons ( Columba leucocephala ) from three natal keys in Florida Bay. Immature birds dispersed from the natal keys at 26–45 days after batching, and most young dispersed more than 20 km during the first 10 days postdispersal. Dispersing birds flew either north to the Florida mainland or east to northeast to the mainline Florida Keys. On the mainland, immature birds fed nearly exclusively within Everglades National Park or an adjacent state wildlife management area. On the mainline keys, White-crowned Pigeons selectively used 5.01–20 ha forest fragments (p < 0.10) during the first 72 hours postdispersal. After this period, dispersing birds showed no preference among fragment size classes but used deciduous seasonal forests more frequently than suburban habitat(p < 0.10). The spatial pattern of dispersal on the mainline keys suggests that, during the first 72 hours postdispersal. White-crowned Pigeons are not able to reach northern Key Largo, where 69% of the deciduous seasonal forests are protected in state or federal ownership. Protection of large forest fragments, especially on southern Key Largo, should be a priority for maintaining populations of White-crowned Pigeons. These forests provide a series of "stepping stones" that enable dispersing immature White-crowned Pigeons to fly to more distant areas where habitat availability is less restricted. This species is threatened in Florida and may play an important role in maintaining plant species diversity in the seasonal deciduous forests of south Florida by dispersing seeds of at least 37 species of trees and shrubs. Protection of sufficient habitat to allow successful postfledging dispersal of this important seed disperser will also protect the ecosystem's biodiversity.