Prenatal identification of a Y-chromosome deletion by Y-specific single copy DNA probes

A sex chromosome deletion was identified in the course of prenatal diagnosis for maternal age. Ultrasound pictures revealed male fetal sex and a comparison with the father's Y chromosome suggested that the altered chromosome might be a de novo deletion of the Y chromosome. DNA hybridization with five human Y-specific probes shows that, among the Y-specific sequences recognized by the probes, only two of them are absent. The normal infant, at birth, was mosaic 46, XYq- /46,XY.     

Genome Stability vs. Deprivation or Enrichment of the Geomagnetic Field

Summary This study suggested that cell-cycle kinetics, DNA replication and DNA repair react to magnetic fields differently. During their culture growth cycle, which lasted about five days, Friend erythroleukemia cells were either kept in the absence of magnetic fields in a magnetically shielded room or irradiated in a solenoid with 70 μT at 50 Hz plus 45 μT DC of the Earth: some cells grew without inducer of in vitro differentiation; others were induced to differentiate hemoglobin through dimethylsulfoxide. It emerged that, during a single culture growth cycle, while proliferation was slightly accelerated by the magnetic-field irradiation achieved in the solenoid both in undifferentiating and dimethylsulfoxide-differentiating cells, DNA replication did not appear to significantly depend on the magnetic-field deprivation achieved in the magnetically shielded room. However, as a result of a 318-day long magnetic-field irradiation in the solenoid, DNA replication remained unchanged in undifferentiating cells and partially inhibited in dimethylsulfoxide-differentiating cells. Following the same long magnetic-field irradiation in the solenoid, the amount of labelled repair patches in the parental DNA strands was slightly reduced.     

Spatial relationships and matrilineal kinship in African savanna elephant (Loxodonta africana) clans

African savanna elephants, Loxodonta africana, live in stable family groups consisting of adult females and their dependent offspring. During the dry season, clans consisting of several family groups typically share a common home range. We compared spatial relationships and mitochondrial DNA (mtDNA) haplotypes among 14 adult female elephants within 3 clans during the dry season in northern Zimbabwe. Spatial relationships were studied by radio-tracking. Home-range similarity was quantified by correlating the estimated utilization distributions of all pairs of elephants. Clans were identified by cluster analysis of the home-range similarity values. All three clans contained at least two of the five mtDNA haplotypes that were found, indicating that clan members are not necessarily matrilineally related. Within clans, home ranges of elephants with the same haplotype were not significantly more similar to each other than those of elephants with different haplotypes. Most elephants within each clan used their shared home ranges independently of each other: the distribution of distances between their positions at any given time did not differ from the distribution expected by chance. However, 8 out of the 26 within-clan pairs exhibited long-term coordination of space use by remaining within known hearing distance of each others low-frequency calls significantly more often than expected by chance. At least four of these coordinated pairs consisted of animals in different family groups. Elephants in three of the four different-family pairs whose movements were coordinated had different haplotypes. Further research is needed to determine the relationship between these coordinated movements and conventionally defined bond-group behavior.Electronic Supplementary Material Supplementary material is available in the online version of this article at .Communicated by C. Nunn     

兰州大气飘尘萃取物的电子自旋共振信号及对细胞DNA的损伤

兰州市是我国化学工业中心之一,大气污染十分严重,空气中含多种致癌物质。据报道,该市大气飘尘中含有大量稳定性自由基物质,其与人类疾病密切相关。研究飘尘吸附的自由基物质及其危害很重要,但国内对此研究极少。Lyons等人首先观察到大气飘尘具有电子顺磁共振(ESR)信号,并用苯萃取得到具有信号的物质,推测信号中可能     

Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction

A prenatal diagnosis was carried out on a 9-week-old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PKD2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity.     

Carrier detection of duchenne muscular dystrophy through analysis of dna from deciduous teeth of a dead affected child

The sister of a child affected by Duchenne muscular dystrophy (DMD) was referred for genetic counselling to assess the risk of her being a carrier. Her brother had died 15 years previously at the age of 8. There were no other affected males in the family. There were no methods for DNA investigation at the time of the child's death and the family had never been studied for linkage with polymorphic probes on the chromosomal region Xp21. The only tissue from which an assessment of the risk could be made by DNA linkage analysis was two of the child's deciduous teeth that the parents had kept. DNA was extracted using a protocol described for the recovery of ancient DNA from museum specimens and archaeological finds. Multiplex amplification did not reveal deletions in 19 exons spanning the hot-spot regions for deletions within the dystrophin gene in Xp21. Linkage analysis using three highly polymorphic microsatellites demonstrated that the sister had not received the X chromosome borne by her brother. These results show that DNA extracted from teeth is a reliable source for molecular diagnosis.     

半导体材料生产废水中的GaAs、Ga~(3+)和Ge~(4+)对活性污泥核酸和氨基酸的影响

研究了GaAs、Ga~(3+)、Ge~(4+)、Hg~(2+)和Cr~(6+)对活性污泥脱氧核糖核酸(DNA)和核糖核酸(RNA)的影响,以及GaAs对活性污泥氨基酸的影响。结果表明,Hg~(2+)和Cr~(6+)主要使活性污泥中核酸的DNA含量减少,GaAs则主要使RNA含量减少,Ge~(4+)浓度达到300ppm/g MLSS对,无论对DNA还是RNA的合成都有较强的抑制影响。低浓度的GaAs对活性污泥氨基酸含量影响不大,而GaAs浓度达360ppm/g MLSS时则使活性污泥中氨基酸含量明显减少。     

Prenatal diagnosis with biotinylated chromosome specific probes

We have used a Y-chromosome specific DNA probe in a controlled study to determine the presence of Y-chromosome material and to detect numerical abnormalities in uncultured amniotic fluid cells by fluorescent hybridization. Using this non-radioactive method, we correctly predicted fetal sex within 48 h in all but 3 of 54 cases and identified an XYY syndrome. The technique was previously tested with no false-positive or false-negative results on cultured interphase or metaphase nuclei of fetal fibroblasts and adult T-lymphocytes. Fluorescent in situ hybridization was applied to long-term fixed cytogenetic preparations up to 44 months old and was shown to be reliable.     

Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation

Direct detection of the fragile X mutation by DNA analysis has greatly simplified prenatal diagnosis of this disease. However, women carrying a fragile X premutation may pass their expanded trinucleotide repeat to sons without expansion to a full mutation. Such sons are predicted to be intellectually normal. In this situation, the accuracy with which the fetal status can be inferred from analysis of chorionic villus sample (CVS) DNA is unclear. We describe such a case, in which it was felt necessary to proceed to fetal blood sampling despite technically unambiguous DNA results from the CVS. The lack of prospective data means that this dilemma may be expected to recur over the next few years when performing prenatal diagnosis on fragile X premutation carriers.