SAFE—The Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements

In this short review, the objectives and work of SAFE—the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network, a European Union Framework VI network of excellence is described. We demonstrate how this network facilitates the implementation of non-invasive prenatal diagnosis (NIPD) for single gene disorders, fetal rhesus typing, aneuploidy and pregnancy complications. Copyright © 2008 John Wiley & Sons, Ltd.     

Deleterious effects of cypermethrin on rat liver and kidney: Protective role of sesame oil

The involvement of reactive oxygen species (ROS) has been implicated in the toxicity of various pesticides. Our study was designed to investigate the induction of oxidative stress by cypermethrin; a Type II pyrethroid in rat liver and kidney. In addition, the protective role of sesame oil against the toxicity of cypermethrin was investigated. Animals were divided into four equal groups; the first group used as control while groups 2, 3 and 4 were treated with sesame oil (5 mL/kg b.w), cypermethrin (12 mg/kg b.w) and the combination of both sesame oil (5 mL/kg b.w) plus cypermethrin (12 mg/kg b.w), respectively. Rats were daily administered with their respective doses for 30 days by gavage. Repeated oral administration of cypermethrin was found to reduce the level of glutathione (GSH) and the activities of the antioxidant enzymes. While, the level of TBARS was elevated indicating the presence of oxidative stress. The activities of LDH, AST and ALT were decreased in the liver extract while increased in the plasma of the cypermethrin-treated group. Also, the levels of urea and creatinine were significantly increased after treatment with cypermethrin. Liver and kidney injury was confirmed by the histological changes. In conclusion, the administration of sesame oil provided significant protection against cypermethrin-induced oxidative stress, biochemical changes, histopathological damage and genomic DNA fragmentation.     

利用LZF－1DNA指纹探针进行家系的父权鉴定

ＬＺＦ－１ＤＮＡ指纹探针经同位素γ－３２Ｐ－ＡＴＰ标记后，检测了４个家系１３个个体血样的ＤＮＡ指纹．结果表明，父母的遗传物质在子代中的传递符合孟德尔遗传规律，无误地确定了４个家系中的亲子血缘关系．ＬＺＦ－１ＤＮＡ指纹探针在亲权鉴定中的父权概率是０．９９９６４，达到了父权认定的目的     

Elevated 8-oxo-7,8-dihydro-2′-deoxyguanosine in genome of T24 bladder cancer cells induced by halobenzoquinones

Halobenzoquinones(HBQs) are an emerging class of halogenated disinfection byproducts(DBPs) in drinking water, which raised public concerns due to potential carcinogenic effects to human bladder. Our previous work demonstrated that HBQs and hydrogen peroxide(H_2O_2)together generated oxidative DNA damage via a metal-independent and intercalationenhanced oxidation mechanism in vitro. This study further investigated the efficiency of various HBQs to induce oxidative DNA damage in T24 bladder cancer cells. Compared with T24 cells without treatment(3.1 lesions per 10~6 d G), the level of 8-oxo-7,8-dihydro-2′-deoxyguanosine(8-oxod G) significantly increased by 1.4, 3.2, 8.8, and 9.2 times after treatment with tetrabromo-1,4-benzoquinone(TBBQ), terachloro-1,4-benzoquinone(TCBQ),2,6-dichloro-1,4-benzoquinone(2,6-DCBQ) and 2,5-dichloro-1,4-benzoquinone(2,5-DCBQ) for24 hr, respectively. Interestingly, we found that the oxidative potency of HBQs in T24 cells(2,5-DCBQ ≈ 2,6-DCBQ TCBQ TBBQ) is inconsistent with that of in vitro ds DNA oxidation(TCBQ TBBQ 2,5-DCBQ 2,6-DCBQ), suggesting HBQs induce oxidative lesions in cellular genomic DNA probably involved with a complex mechanism.     

Pollution and Genetic Structure of North American Populations of the Common Dandelion (Taraxacum Officinale)

Assessing the genetic structure of natural populations differentially impacted by anthropogenic contaminants can be a useful tool for evaluating the population genetic consequences of exposure to pollution. In this study, measures of genetic diversity at variable-number-tandem-repeat loci in six dandelion populations (3 urban and 3 rural) showed patterns that may have been influenced by exposure to environmental contaminants. Mean genetic similarity among individuals within a population was significantly and positively correlated with increasing levels of airborne particulate matter ( 10 m, PM₁₀) and soil concentrations of four metals (Cd, Fe, Ni and Pb). In addition, mean genetic similarity was always significantly higher at the urban sites compared to rural sites. There was a significant negative correlation between the number of genotypes at a site and increasing amounts of PM₁₀, concentrations of five soil metals (Cd, Cu, Fe, Ni and Pb), leaf tissue levels of Fe and a significant positive correlation between the extent of clonality at a site and levels of PM₁₀ and soil concentrations of five metals (Cd, Cu, Fe, Ni and Pb). Although, this study does not directly establish a causal link between the specific contaminants detected at the study sites and differences in genetic diversity, our data are consistent with the hypothesis that pollution-induced selection has contributed in some fashion to the lower genetic diversity found at the urban sites.     

Prenatal diagnosis of fragile x syndrome: (cgg)n expansion and methylation of chorionic villus samples

Fragile X syndrome is the most common form of inherited mental retardation, due to an expansion of the (CGG)_n trinucleotide repeat in the FMR-1 gene and hypermethylation of its 5′ upstream CpG island. Two major problems remain to be resolved for fragile X prenatal diagnosis: the abnormal methylation patterns of chorionic villus samples (CVS) and the inability to predict the mental status of females with the full mutation. We present here the results of ten prenatal diagnoses of fragile X syndrome using Southern blotting and polymerase chain reaction (PCR) amplification, and the analysis of 50 further CVS to test the methylation status of the CpG island of the FMR-1 gene. In the ten ‘at-risk’ CVS, eight normal (five males and three females) and two affected male fetuses were detected. Absence of methylation in the CVS was observed in two cases, which was not found upon subsequent examination of the newborn or of fetal tissues. In the 50 CVS not ‘at risk’ for fragile X syndrome, abnormal fragment patterns for probe StB12.3 were detected in 32 per cent for female and 24 per cent for male fetuses. This abnormal pattern could be due to absent or partial methylation of the CpG island of the FMR-1 gene in chorionic villus tissues.     

Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem

A prenatal diagnosis of adult polycystic kidney disease by DNA testing is reported. Evidence showing a linkage between the disease and the 3′HVR and 24.1 restriction fragment length polymorphisms (RFLPs) on chromosome 16 was obtained in the proband's family by linkage analysis of data and homogeneity testing with Italian families of the linked type. Fetal genotype prediction based on both flanking markers was confirmed by histological and ultrastructural findings in fetal kidneys.     

Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester

Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD was sought in the first half of pregnancy. High-resolution ultrasonography revealed echogenic, normal-sized kidneys at 15+4 weeks. Microsatellite DNA analysis of a chorionic villus sample, parental blood, and blood of an affected sibling showed that the fetus had the maternal haplotype and a recombination of the paternal haplotype. Thus, no distinction between homo- and heterozygosity for the ARPKD mutation in the fetus was possible. A further ultrasound examination at 19+4 weeks confirmed the previous results, indicating that the fetus was likely to be affected. After termination of the pregnancy, the diagnosis was confirmed on microscopic examination.     

Relatedness, polyandry and extra-group paternity in the cooperatively-breeding white-browed scrubwren (Sericornis frontalis )

We used DNA fingerprinting to examine the genetic parentage and mating system of the cooperatively breeding white-browed scrubwren, Sericornis frontalis, in Canberra, Australia. Our analyses revealed a remarkable variety of mating tactics and social organization. Scrubwrens bred in pairs or multi-male groups that consisted of a female and two or more males. Females were always unrelated to the pair male or alpha (dominant) male. Among multi-male groups we found three different mating tactics. Firstly, when alpha and beta (subordinate) males were unrelated, they usually shared paternity in the brood. This resulted in both males gaining reproductive benefits directly. Secondly, when beta males were not related to the female but were related to the alpha males, beta males sired offspring in some broods. In this situation, beta males gained reproductive benefits both directly and potentially indirectly (through the related alpha male). Thirdly, when beta males were related to the female or both the female and alpha male, they remained on their natal territory and did not sire any offspring. Thus beta males gained only indirect reproductive benefits. Overall, when group members were related closely, the dominant male monopolized reproductive success, whereas when the members were not related closely the two males shared paternity equally. This positive association between monopolization of reproduction and relatedness is predicted by models of reproductive skew, but has not been reported previously within a single population of birds. Other cooperatively breeding birds with both closely related and unrelated helpers may show a similar variety of mating tactics. Finally, we found that extra-group paternity was more common in pairs (24% of young) than in multi-male groups (6%), and we discuss three possible reasons for this difference. Received: 21 May 1996 / Accepted after revision: 14 December 1996