British Library Electronic Table of Contents (United Kingdom)

Recent studies have shown Y chromosome microdeletions associated with male infertility. The factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. Therefore, the aim of this study was to investigate the effects of seminal hexachlorocyclohexane (HCH) and its isomers, an environmental pollutant, in 50 fertile and 50 infertile males in relation to semen quality and the incidence of Y chromosome microdeletion in azoospermic factor (AZF) region. As compared to control, an increased HCH level and significantly decreased semen quality were observed in the infertile males. A positive significant association was found between sperm c...

UK PubMed Central (United Kingdom)

The human genome contains greater than 20 actin-related sequences, six of which at least are expressed as protein. We have shown by blot hybridization the presence of actin-like sequences on both the...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

Fetal nucleated cells within maternal blood represent a potential source of fetal genes obtainable by venipuncture. The authors used monoclonal antibody against the transferrin receptor (TIR) to identify nucleated erythrocytes in the peripheral blood of pregnant women. Candidate fetal cells from 19 pregnancies were isolated by flow sorting at 12 1/2-17 weeks gestation. The DNA in these cells was amplified for a 222-base-pair (bp) sequence present on the short arm of the Y chromosome as proof that the cells were derived from the fetus. The amplified DNA was compared with standardized DNA concentrations. In the case of the female fetus, DNA prepared from samples at 32 weeks of gestation and cord blood at delivery also showed the presence of the Y chromosomal sequence, suggesting Y sequence mosaicism or translocation. In 10/12 cases where the 222-bp band was absent, the fetuses were female. Thus, they were ...

Science.gov (United States)

Recent studies have shown Y chromosome microdeletions associated with male infertility. The factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. Therefore, the aim of this study was to investigate the effects of seminal hexachlorocyclohexane (HCH) and its isomers, an environmental pollutant, in 50 fertile and 50 infertile males in relation to semen quality and the incidence of Y chromosome microdeletion in azoospermic factor (AZF) region. As compared to control, an increased HCH level and significantly decreased semen quality were observed in the infertile males. A positive significant association was found between sperm count with alpha-HCH and beta-HCH in the infertile males. A negative ...

Energy Technology Data Exchange (ETDEWEB)

The human zinc finger protein genes (ZFX/Y) were identified as a result of a systematic search for the testis-determining factor gene on the human Y chromosome. Although they play no direct role in sex determination, they are of particular interest because they are highly conserved among mammals, birds, and amphibians and because, in eutherian mammals at least, they have active alleles on both the X and the Y chromosomes outside the pseudoautosomal region. We used in situ hybridization to localize the homologues of the zinc finger protein gene to chromosome 1 of the Australian echidna and to an equivalent position on chromosomes 1 and 2 of the playtpus. The localization to platypus chromosome 1 was confirmed by Southern analysis of a Chinese hamster [times] platypus cell hybrid retaining most of platypus chromosome 1. This localization is consistent with the cytological homology of chromosome 1 between ...

British Library Electronic Table of Contents (United Kingdom)

Males and females display differences in physiology, behaviour and susceptibility to many diseases. Genome-wide transcription profiling studies have uncovered large-scale sex differences in autosomal gene expression in somatic tissues that are thought to underlie such 'sexual dimorphisms'. Because males and females differ genetically mainly in their sex chromosome complement, most sex differences can be traced back to the X and Y chromosomes. Although sex hormones are usually considered the main architects of sexual dimorphisms, recent studies have demonstrated that sex chromosomes can also induce sex differences in somatic gene expression in the absence of hormonal differences. The recent discovery of epigenetic sex differences that are not hormone-induced brings us closer to understandin...

Science.gov (United States)

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UK PubMed Central (United Kingdom)

Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available

UK PubMed Central (United Kingdom)

We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and...Full Text Available

British Library Electronic Table of Contents (United Kingdom)

Contents The aim of this study was a cytogenetic analysis of stallions semen to find sex chromosome aberrations and to determine if there was an association between stallion-s age and aberration frequency for the sex chromosomes. Sperm samples were collected from 22 stallions of various age from 3 to 23-years. Multicolour FISH was performed on each sample, using probes for the sex chromosomes and EGFR gene, localized on 4p12 in domestic horse. A total of 26199 sperm cells were analysed (from 1 070 to 1 532 per animal). Among the analysed cells, there were 50.318% with X chromosome, 48.543% with Y chromosome and 1.139% with aberrant chromosomes. The frequency of aberrations was: sex chromosomes nullisomy (0.466%), XY aneuploidy (0.454%), XX disomy (0.146%), YY disomy (0.041%), diploidy (0.0...

UK PubMed Central (United Kingdom)

BackgroundThe beta-defensin gene cluster (DEFB) at chromosome 8p23.1 is one of the most copy number (CN) variable regions of the human genome. Whereas individual DEFB CNs have been...Full Text Available

British Library Electronic Table of Contents (United Kingdom)

Chitosan-filled rubber compounds were prepared using a laboratory sized two-roll mill. The effect of chitosan loading on three different types of rubber (STR 5L, ENR-25 and SBR) was investigated. The results indicate that, overall, the scorch time (t"S"2), cure time (t"9"0), tensile strength and elongation at break (Eb) decrease with chitosan loading, whereas an increment was observed in the maximum torque (MH) and the tensile modulus (M100 and M300) of all three types of rubber. At a similar chitosan loading, the cure characteristics of SBR were found to be longer (for t"S"2 and t"9"0) and higher (for MH) than those of STR 5L and ENR-25. The tensile properties of SBR were found to be the lowest of the three rubbers at a similar chitosan loading. The rubber-filler interaction for all three...

British Library Electronic Table of Contents (United Kingdom)

Coutinho MF, Encarnao M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigals O, Prata MJ, Alves S. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Mucolipidosis II (ML II alpha/beta), or I-cell disease, is a rare genetic disease in which activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent. GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta. Most of these mutations were found to be private or rare. ...

DEFF Research Database (Denmark)

Colorectal cancer is the third most common malignant tumor and the fourth-leading cause of cancer death worldwide. The crucial role of fatty acids for a number of important biological processes suggests a more in depth analysis of inter-individual differences in fatty acid metabolizing genes as contributing factor to colon carcinogenesis. We examined the association between genetic variability in 43 fatty acid metabolism-related genes and colorectal risk in 1225 CRC cases and 2032 controls participating in the European Prospective Investigation into Cancer and Nutrition study. 392 single nucleotide polymorphisms were selected using pairwise tagging with an r(2) cutoff of 0.8 and a minor allele frequency of >5%. Conditional logistic regression models were used to estimate odds ratios and corresponding 95% confidence intervals. Haplotype analysis was performed using a generalized linear model framework. On the genotype level, HPGD, PLA2G6, and TRPV3 were ...

British Library Electronic Table of Contents (United Kingdom)

Natural gas is a promising alternative fuel to meet strict engine emission regulations in many countries. Natural gas engines can operate at lean burn and stoichiometric conditions with different combustion and emission characteristics. In this paper, the operating envelope, fuel economy, emissions, cycle-to-cycle variations in indicated mean effective pressure and strategies to achieve stable combustion of lean burn natural gas engines are highlighted. Stoichiometric natural gas engines are briefly reviewed. To keep the output power and torque of natural gas engines comparable to those of their gasoline or Diesel counterparts, high boost pressure should be used. High activity catalyst for methane oxidation and lean deNOx system or three way catalyst with precise air-fuel ratio control str...

British Library Electronic Table of Contents (United Kingdom)

An impingement jet system was used to study flow-assisted corrosion (FAC) of 3003 aluminum (Al) alloy in ethylene glycol-water solutions that simulates the automotive coolant by corrosion potential and electrochemical impedance spectroscopy (EIS) measurements as well as computational fluid dynamics (CFD) simulation. The effects of solution pH and fluid impact angle on Al FAC were determined. An increase of solution pH enhances the activity of Al due to dissolution of Al oxide film in alkaline environment. Moreover, Al activity decreases with the increasing fluid impact angle to the specimen. A CFD simulation shows that, with the increase of impact angle, the electrode area under high-velocity flow field decreases and that under low-velocity flow field increases. Consequently, the shear str...

British Library Electronic Table of Contents (United Kingdom)

In the present study, human neonatal fibroblasts were isolated from a two-month-old human male. The purpose of the present investigation was the analysis of the morphology (light and transmission electron microscopy), karyotype and growth characteristics of the human neonatal fibroblast cell culture B-HNF-1. Moreover, STR typing and mitochondrial DNA amplification and sequencing was also performed. Analysis of chromosomes count showed that B-HNF-1 cell culture is diploid and has normal male karyotype 46, XY, which was stable during cultivation. The transmission electron microscopy demonstrated the ultra-structure of the B-HNF-1 cells; they have typical morphological features of proteosynthesis-active cells. Large number of fibroblasts bearing different shapes and surface characteristics ad...

International Nuclear Information System (INIS)

Radiation chimeras in the early phase after bone marrow transplantation are a good model to study the efficiency of the body's nonspecific defense system represented by macrophages (M phi), polymorphonuclear cells (PMN), and NK cells. These cell types are present in large numbers in spleen and liver at that time, whereas the specific immune system represented by T and B cells is functionally deficient. We previously reported enhanced activities in vitro of M phi (and PMN) from recipient animals in an early phase after allogeneic bone marrow transfer. We here demonstrate that these activities result in enhanced spontaneous resistance against Listeria monocytogenes in vivo: CFU of L. monocytogenes in spleen and liver 48 h after infection were about 1 or 2 to 4 log steps less than in untreated control mice of donor or host haplotype. This enhanced resistance decreased over the 4-mo period after marrow transfer. Preactivated M phi were identified as the most important ...

International Nuclear Information System (INIS)

CT-Expo is a novel MS Excel application for assessing the radiation doses delivered to patients undergoing CT examinations, based on computational methods that were used to analyze the data collected in the German survey on CT practice in 1999. The program enables the calculation of all dose quantities of practical value, such as axial dose free-in-air, weighted CTDI, dose-length product, effective dose and uterine dose. In contrast to existing programs for CT dose assessment, CT-Expo offers a number of unique features, such as gender-specific dose calculation for all age groups (adults, children, newborns), applicability to all existing scanner models including correction of scanner-specific influences, and the possibility of comparison with the results from the German CT survey on CT practice. Three different application modules offer free and standardized dose calculations as well as a comprehensive benchmarking section including guidance on dose optimization. The program is ...

Science.gov (United States)

Taeniasis has been known as one of the prevalent parasitic infections in Korea. Until recently, Taenia saginata had long been considered a dominant, and widely distributed species but epidemiological profiles of human Taenia species in Korea still remain unclear. In order to better understand distribution patterns of human Taenia tapeworms in Korea, partial nucleotide sequences of mitochondrial cox1 and ITS2 (internal transcribed spacer 2) were determined, along with morphological examinations, on 68 Taenia specimens obtained from university museum collections deposited since 1935. Genomic DNA was extracted from formalin-preserved specimens. Phylogenetic relationships among the genotypes (cox1 haplotype) detected in this study were inferred using the neighbor-joining method as a tree building method. Morphological and genetic analyses identified 3 specimens as T. solium, 51 specimens as T. asiatica, and 14 specimens as T. saginata. Our results indicate that all 3 ...

Energy Technology Data Exchange (ETDEWEB)

Processing certain raw materials containing natural radioactive isotopes (e.g. U-238, Th-232 or K- 40) into products such as glas, abrasives, grinding materials or electrodes used for gasshielded tungsten-arc welding also leads to certain concentrations of industrial waste containing natural radioactive materials. Such industrial waste does not necessarily contain natural radioactive substances in concentrations exceeding the highest possible levels but nevertheless in significantly measurable quantities. This, however, frequently leads to confusion bordering on irritation by entities processing such substances as well as the general public, since they tend to believe natural radioactive substances in unobjectable concentration to cause similar or identical - health - consequences as man made radioactive substances in detrimental concentration. Radioactive materials may be incorporated intentionally or unintentionally into the product as main or additional ingredients. The recent ...

Energy Technology Data Exchange (ETDEWEB)

This guide is one of the actions following from the recommendations of the Thermie B project that aimed to support the development of a new European Integrated Clean Coal (CCT) Program concept (STR - 1121 - 96), November 1998. The concept aimed to enhance the market deployment of EU CCTs. This guide is prepared for EU industry to help them finding support for their CCT exports to the target markets. The guide will include easy accessible information on the most relevant EC-programs and is intended as a practical tool for EU CCT industry, to assist them in identifying and selecting the export support and programs best able to support their specific export assistance. The guide is a manual (signpost) through the 'jungle of assistance' and therefore does not include extensive information on application procedures, since this kind of information can be easily obtained, once the relevant program is identified. Also information will be presented on EU ...

International Nuclear Information System (INIS)

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with ...

Science.gov (United States)

The synapsin III gene, SYN3, which belongs to the family of synaptic vesicle-associated proteins, has been implicated in the modulation of neurotransmitter release and in synaptogenesis, suggesting a potential role in several neuropsychiatric diseases. The human SYN3 gene is located on chromosome 22q12-13, a candidate region implicated in previous linkage studies of schizophrenia. However, association studies of SYN3 and schizophrenia have produced inconsistent results. In this study, four SYN3 SNPs (rs133945 (-631 C>G), rs133946 (-196 G>A), rs9862 and rs1056484) were tested in three sets of totally 3759 samples that comprise 655 affected subjects and 626 controls in the Irish Case-Control Study of Schizophrenia (ICCSS), 1350 samples incorporating 273 pedigrees in the Irish Study of High Density Schizophrenia Families (ISHDSF), and 564 unrelated schizophrenia patients and 564 healthy individuals in a Chinese case-control sample. The expression levels of SYN3 in schizophrenic ...