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At least 433 records · Page 24Linked to original sources

Towards a kala azar risk map for Sudan: mapping the potential distribution of Phlebotomus orientalis using digital data of environmental variables.

The need to define the geographical distribution of Phlebotomus orientalis results from its importance as the dominant vector of kala azar (visceral Iceishmaniasis) in Sudan. Recent epidermics of this disease in southern and eastern Sudan caused an estimated 100000 deaths and have renewed the impetus for defining the ecological boundaries of the vector. This information is an essential prerequisite to the production of a risk map for kala azar. This study uses data on the presence and absence of P. orientalis from 44 collecting sites across the central belt of Sudan. A logistic regression model was used to estimate the probability of the presence of P. orientalis at each collecting site as a function of climatic and environmental variables (rainfall; temperature; altitude; soil type and the satellite-derived environmental proxies - Normalized Difference Vegetation Index and Land Surface Temperature). The logistic regression model indicates mean annual maximum daily temperature and soil type as the most important ecological determinants of P. orientalis distribution. An initial risk map was created in a raster-based geographical information system which delineates the area where P. orientalis may occur. This map was then refined using a mask layer indicating the known rainfall-based boundaries of the distribution of Acacia-Balanites woodland - a woodland type known to be associated with the distribution of this vector. The predictive performance of the risk map is discussed.

Animals↗

Genetic mapping in the major histocompatibility complex by restriction enzyme site polymorphisms: most mouse class I genes map to the Tla complex.

From a genomic library constructed from sperm DNA of the inbred BALB/c mouse, we previously isolated 54 cosmid clones that contain 36 class I genes and can be divided by restriction map analyses into 13 gene clusters. We have isolated single- and low-copy DNA probes from each of these clusters to visualize restriction enzyme site polymorphisms in the DNAs from various congeneic and recombinant congeneic mice. These polymorphisms permit us to map each of the 13 cosmid clusters to a precise location in the major histocompatibility complex of the mouse. Thirty-one of 36 class I genes map into the Tla complex of the major histocompatibility complex whereas the remaining 5 genes map to the H-2 complex. Thus, all 36 class I genes are located in the major histocompatibility complex. Analysis of the number of restriction enzyme fragments visualized by the single- and low-copy DNA probes suggests that the class I genes in different inbred strains of mice probably undergo gene duplications and deletions, presumably by homologous but unequal crossing-over.

Animals↗

Genomic structure of human microtubule-associated protein 2 (MAP-2) and characterization of additional MAP-2 isoforms.

We have determined that the gene for human microtubule-associated protein 2 (MAP-2) spans 19 exons, including 6 exons identified in this study, 1-4, 8, and 13; all six of these exons are transcribed. The alternative splicing of coding exons generates a greater diversity of MAP-2 transcripts and isoforms. The first three exons encode alternate 5' untranslated regions that can be spliced to additional untranslated sequences contained in exons 4 and 5. Exons 8 and 13 are transcribed in human fetal spinal cord, adult brain, MSN cells, and rat brain, and each exon maintains an open reading frame with both high and low molecular weight MAP-2 isoforms. Antibodies generated to synthetic peptides of exons 8 and 13 demonstrate that these exons are translated and MAP-2 isoforms containing these exons are generated.

Alternative Splicing↗

Intraoperative identification of a radiofrequency lesion allowing validation of catheter mapping of ventricular tachycardia with a computerized balloon mapping system.

Radiofrequency current was utilized to mark the anatomic location of earliest endocardial activation during catheter mapping of ventricular tachycardia. Intraoperative identification of the radiofrequency lesion allowed validation that the site of earliest endocardial activation determined by a catheter mapping study was the same as assessed by a computerized balloon mapping system. Radiofrequency current may be a useful method of marking areas of endocardium thought to be potential sites for ablative surgery as well as allowing correlation between different mapping techniques.

Cardiac Catheterization↗

Pace mapping using body surface potential maps to guide catheter ablation of accessory pathways in patients with Wolff-Parkinson-White syndrome.

BACKGROUND. A pace mapping technique using body surface potential maps (BSPMs) was developed to guide the positioning of an ablation catheter at the ventricular insertion point of accessory pathways (AP) in patients with the Wolff-Parkinson-White syndrome (WPW). METHODS AND RESULTS. The study was performed on 30 WPW patients. BSPMs were recorded with 63 leads distributed over the entire torso surface. The catheter used for radiofrequency ablation was first placed in the vicinity of the ventricular preexcitation site predicted by BSPMs recorded during the delta wave. BSPMs were then recorded during pacing with this catheter, the comparison between the preexcited and paced BSPMs indicated whether the pacing site was too anterior or posterior with respect to the preexcitation site, and the catheter was moved accordingly. This process was repeated until the preexcited and paced BSPMs were highly correlated (r > or = 0.8), and ablation then was attempted. It was possible to successfully ablate the AP in 28 patients after an investigation that lasted 54 +/- 44 minutes between the recording of the first paced BSPM and that of the BSPM paced at the successful ablation site. Patients with left free wall pathways needed less investigation time compared with patients with pathways of other locations (46 +/- 9 versus 100 +/- 25 minutes, p = 0.031). The sensitivity of BSPM pace mapping was assessed using pacing with a multipolar catheter, and significant changes were observed on the BSPMs for beats with pacing sites that were only 5 mm apart. CONCLUSIONS, BSPM pace mapping allowed us to achieve a 93% success rate with short investigation durations, provides significant information that cannot be obtained with the standard 12-lead ECG, is a self-correcting procedure that reduces the importance of BSPM alterations due to individual differences in the shape of the torso or heart, and is applicable only to patients with AP showing antegrade conduction.

Adolescent↗

Mapping extracellular pH in rat brain gliomas in vivo by 1H magnetic resonance spectroscopic imaging: comparison with maps of metabolites.

The value of extracellular pH (pH(e)) in tumors is an important factor in prognosisand choice of therapy. We demonstrate here that pH(e) can be mappedin vivo in a rat brain glioma by (1)H magnetic resonance spectroscopic imaging (SI) of the pH buffer (+/-)2-imidazole-1-yl-3-ethoxycarbonylpropionic acid (IEPA). (1)H SI also allowed us to map metabolites, and, to better understand the determinants of pH(e), we compared maps of pH(e), metabolites, and the distribution of the contrast agent gadolinium1,4,7,10-tetraazacyclododecane-N,N',N",N"'-tetraaceticacid (Gd-DOTA). C6 cells injected in caudate nuclei of four Wistar rats gave rise to gliomas of approximately 10 mm in diameter. Three mmols of IEPA were injected in the right jugular vein from t = 0 to t = 60 min. From t = 50 min to t = 90 min, spin-echo (1)H SI was performed with an echo time of 40 ms in a 2.5-mm slice including the glioma (nominal voxel size, 2.2 microl). IEPA resonances were detected only within the glioma and were intense enough for pH(e) to be calculated from the chemical shift of the H2 resonance in almost all voxels of the glioma. (1)H spectroscopic images with an echo time of 136 ms were then acquired to map metabolites: lactate, choline-containing compounds (tCho), phosphocreatine/creatine, and N-acetylaspartate. Finally, T(1)-weighted imaging after injection of a bolus of Gd-DOTA gave a map indicative of extravasation. On average, the gradient of pH(e) (measured where sufficient IEPA was present) from the center to the periphery was not statistically significant. Mean pH(e) was calculated for each of the four gliomas, and the average was 7.084 +/- 0.017 (+/- SE; n = 4 rats), which is acid with respect to pH(e) of normal tissue. After normalization of spectra to their water peak, voxel-by-voxel comparisons of peak areas showed that N-acetylaspartate, a marker of neurons, correlated negatively with IEPA (P < 0.0001) and lactate (P < 0.05), as expected of a glioma surrounded by normal tissue. tCho (which may indicate proliferation) correlated positively with pH(e) (P < 0.0001). Lactate correlated positively with tCho (P < 0.0001), phosphocreatine/creatine (P < 0.001), and Gd-DOTA (P < 0.0001). Although lactate is exported from cells in association with protons, within the gliomas, no evidence was observed that pH(e) was significantly lower where lactate concentration was higher. These results suggest that lactate is produced mainly in viable, well-perfused, tumoral tissue from which proton equivalents are rapidly cleared.

Animals↗

[May Medically Assisted Procreation (MAP) be relevant for homosexual women? Study among 147 gynaeco-logists involved in MAP techniques].

The second part of the twentieth century has seen societal modifications as well as evolution of medical techniques allowing now thinking human procreation in terms of choices or even rights. Certain voices require sometimes Medically Assisted Procreation (MAP) for lesbians. Even though society did not allow such a possibility in France, it seemed interesting to question about it professionals actively involved in the use of MAP techniques. Through systematic internet queries, we obtained a list of one hundred private or public french medical institutions with a unit for the treatment of sterility. A telephone call to their secretary allowed us to individualize those doctors who did practice MAP. A sample of 147 medical doctors practicing MAP was then drawn. They were questioned with a clinical instrument including 20 ended-questions in order to assess their opinions on: homosexual women with a desire of a child; possibility for these clinicians to intervene with a donor insemination in such situations; developmental risk for such children. One hundred twenty five (85%) accepted to answer. Nine percent of these gynaecologists still consider homosexuality as pathological, and 10% as deviant - contrary to international classifications of mental disorders - and 5% deny good maternal abilities to homosexual women. Before the so-called french laws of bioethics in 1994, none of them had practiced a donor insemination for a lesbian couple, though 4% had realized some for single homosexual women. Two third of them do not agree opening donor insemination to homosexual women though for half of them, the anonymity of a donor is not perceived as prejudicial to the child. Eighty-seven percent of these gynaecologists think that a child brought up by homosexual parents is at risk for developmental disorder, the configuration supposed the most pathogenic being when the birth results from a donor insemination. The supposedly most important risk factors are thought to be the marginality of an homosexual family and the lack of a paternal figure at home. However, for 68% of the clinicians, this role can be taken by another male figure. These reasons make the gynaecologists reluctant to participate actively in the constitution of such a kind of family by the practice of a donor insemination. Even though demands of lesbian couples were not listed as an indication of donor insemination in the laws of bioethics, this does not seem to lessen the number of these demands in this population, and moreover if the law would allow this indication, half of these doctors would agree to practice it. The expression of the desire of a child by homosexual women and their request for its realization through medical techniques places the clinicians at the center of an ethical reflexion fed more by personal affects rather than scientific studies - however available - on the development of children brought up by an homosexual couple. Indeed, these studies indicate that these children suffer more from a societal view than parental sexual orientation, and it seems therefore appropriate to shed light on it in order to alleviate the weight of a stigmatization without any clinical argument founding it until now.

Adult↗

Technology development at the interface of proteome research and genomics: mapping nonpolymorphic proteins on the physical map of mouse chromosomes.

Data obtained from protein spots by peptide mass fingerprinting are used to identify the corresponding genes in sequence databases. The relevant cDNAs are obtained as clones from the Integrated Molecular Analysis of Genome Expression (I.M.A.G.E.) consortium. Mapping of I.M.A.G.E. clones is performed in two steps: first, cDNA clones are hybridized against a 10-hit genomic mouse bacterial artificial chromosome (BAC) library. Second, interspersed repetitive sequence polymerase chain reaction (IRS-PCR) using a single primer directed against the mouse B1 repeat element is performed on BACs. As each cDNA detects several BACs, and each individual BAC has a 50% chance to recover an IRS-PCR fragment, the majority of cDNAs produce at least a single IRS-PCR fragment. Individual IRS fragments are hybridized against high-density spotted filter grids containing the three-dimensional permutated pools of yeast artificial chromosome (YAC) library resources that are currently being used to construct a physical map of the mouse genome. IRS fragments that hybridize to YAC clones already placed into contigs immediately provide highly precise map positions. This technology therefore is able to draw links between proteins detected by 2-D gel electrophoresis and the corresponding gene loci in the mouse genome.

Animals↗

Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs.

The 5q- syndrome is a myelodysplastic syndrome with the 5q deletion ¿del(5q) as the sole karyotypic abnormality. We are using the expressed sequence tag (EST) resource as our primary approach to identifying novel candidate genes for the 5q- syndrome. Seventeen ESTs were identified from the Human Gene Map at the National Center for Biotechnology Information that had no significant homology to any known genes and were assigned between DNA markers D5S413 and D5S487, flanking the critical region of the 5q- syndrome at 5q31-q32. Eleven of the 17 cDNAs from which the ESTs were derived (65%) were shown to map to the critical region of the 5q- syndrome by gene dosage analysis and were then sublocalized by PCR screening to a YAC contig encompassing the critical region. Eight of the 11 cDNA clones, upon full sequencing, had no significant homology to any known genes. Each of the 8 cDNA clones was shown to be expressed in human bone marrow. The complete coding sequence was obtained for 2 of the novel genes, termed C5orf3 and C5orf4. The 2.6-kb transcript of C5orf3 encodes a putative 505-amino-acid protein and contains an ATP/GTP-binding site motif A (P loop), suggesting that this novel gene encodes an ATP- or a GTP-binding protein. The novel gene C5orf4 has a transcript of 3.1 kb, encoding a putative 144-amino-acid protein. We describe the cloning of 2 novel human genes and the sequencing, expression patterns, and mapping to the critical region of the 5q- syndrome of a further 6 novel cDNA clones. Genomic localization and expression patterns would suggest that the 8 novel cDNAs described in this report represent potential candidate genes for the 5q- syndrome.

Amino Acid Sequence↗

A 13 kb resolution cosmid map of the 14 Mb fission yeast genome by nonrandom sequence-tagged site mapping.

We present the application of a nonrandom sequence-tagged site (STS) content detection method in mapping an entire genome, that of fission yeast. The novelty of our strategy is in the use of STS probes made from both ends of cosmid clones, selected on the basis of "sample without replacement" (only library clones that show no previous positive hybridization are selected and made into probes). We developed powerful techniques, based on consistency analysis, for error detection and contig assembly. In addition, we probed our library with genetically mapped markers and Notl or Sfil linking clones, thereby anchoring contigs onto chromosomes. Our map contains more than 1000 sites, including genes (most were previously unmapped), occurrences of known repetitive elements, and Notl-Sfil restriction sites.

Chromosome Mapping↗

Single-strand conformational polymorphism (SSCP) mapping of the mouse genome: integration of the SSCP, microsatellite, and gene maps of mouse chromosome 1.

Interspersed repetitive sequence (IRS) PCR and repetitive element-to-bubble (IRS-bubble) PCR have been utilized to rapidly generate large numbers of mouse-specific, chromosome 1-enriched STSs from mouse-hamster somatic cell hybrids. Single-strand conformational polymorphism (SSCP) has been used to localize 39 new repetitive element-linked STSs to the mouse map: 22 to Chr 1, 10 to Chr. 15, 2 each to Chrs 12 and 14, and three to Chr 7. In addition, we have integrated the SSCP, single-strand length polymorphism, and restriction fragment length polymorphism maps of mouse Chr. 1, resulting in a high-density map of the chromosome, containing over 100 loci, all typed on a single interspecific backcross.

Animals↗

A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.

Chromosomal region 11q22-q23 is a frequent target for deletion during the development of many solid tumour types, including breast, ovary, cervix, stomach, bladder carcinomas and melanoma. One of the most commonly deleted subregions contains the SDHD gene, which encodes the small subunit of cytochrome b (cybS) in mitochondrial complex II (succinate-ubiquinone oxidoreductase). Germline mutations in SDHD cause hereditary paraganglioma type 1 (PGL1), and suggest a tumour suppressor role for cybS. We present a high-resolution physical map spanning SDHD, covered by 19 YACs and 20 BACs. An approximate 1.1-Mb gene-rich region around SDHD is spanned by a complete BAC contig. Twenty-six new STSs are developed from the BAC clone ends. In addition to the discovery and characterisation of 15 new simple tandem repeat polymorphisms, we provide integrated positional information for 33 ESTs and known genes, including KIAA1391, POU2AF1 (OBF1), PPP2R1B, CRYAB, HSPB2, DLAT, IL-18, PTPS, KIAA0781 and KAIA4591, which is mapped by NotI site cloning. We describe full-length transcript sequence for PPP2R1B, encoding the protein phosphatase 2A regulatory subunit A beta isoform. We also discover a processed pseudogene for USA-CYP, a cyclophilin associated with U4/U6 snRPNs, and a novel gene, DDP2, encoding a mitochondrial protein similar to the X-linked deafness-dystonia protein, which is juxtaposed 5'-to-5' to SDHD. This map will help assess this gene-rich region in PGL and in other common tumours.

3' Untranslated Regions↗

Construction of a genomic map of Moraxella (Branhamella) catarrhalis ATCC 25238 and physical mapping of virulence-associated genes.

A physical genome map of the Moraxella catarrhalis type strain (ATCC 25238) has been constructed using pulsed field gel electrophoresis. Macrorestriction analyses of the genome of M. catarrhalis were performed by digestion with the restriction enzymes SmaI, NotI, and RsrII, which cleave the single circular chromosome into 9, 10, and 6 fragments, respectively. The chromosomal fragments generated by pulsed field gel electrophoresis were converted to a linkage map utilizing a combination of partial digestions, and cross-hybridizations. Moraxella catarrhalis, like a number of other respiratory pathogens, has a relatively small genome estimated at 1750 kilobase pairs or about 40% of the size of the Escherichia coli genome. The locations of the four ribosomal RNA operons (rrnLS) were determined by Southern hybridization and by digestion with I-CeuI endonuclease. A number of genes involved in virulence have been placed onto the physical map by Southern hybridization including those encoding the predominant outer-membrane proteins and the chromosomal gene encoding beta-lactamase.

Blotting, Southern↗

Developmental plasticity in cerebellar tactile maps: fractured maps retain a fractured organization.

Plasticity following deafferentation has been repeatedly demonstrated in topographic sensory maps in the mammalian brain. In this paper we investigated the developmental plasticity of the fractured somatotopic map found in the tactile regions of the rat cerebellum. At various stages of postnatal development between postnatal days 1 and 30, we cauterized the infraorbital branch of the trigeminal nerve, which innervates the upper lip, furry buccal pad, and vibrissae that are represented within cerebellar folium crus IIa. The organization of the crus IIa map was then examined 2 to 3 months after denervation. We found that tactile receptive fields had reorganized throughout the denervated area but maintained a fractured somatotopy. Comparison of the reorganization in different animals showed that the denervated upper lip region was consistently and predominantly replaced by representation of the upper incisors. Analysis of evoked field potentials revealed an alteration, in denervated animals, of the response of the granule cell layer to brief tactile stimulation. This response in normal animals consists of two components at different latencies. Animals lesioned later in development were less likely to have the short latency component. This result suggests a difference in the developmental sensitivity of different cerebellum-related pathways to nerve lesions.

Animals↗

An extended genetic linkage map and an "index" map for human chromosome 17.

Our previous genetic map for chromosome 17 has been expanded to include 72 loci defined by 90 RFLP markers and four microsatellite markers assayed by the polymerase chain reaction. Forty-one of these loci were ordered with odds greater than 1000:1 against local inversion, and the other 31 were ordered within 95% confidence limits. From the set of 41 unambiguously mapped loci, 14 well-spaced "index markers" can be extracted for efficient genetic studies. The complete map spans 173 cM (136 cM in males and 214 cM in females); average spacing between markers is 4.2 cM.

Animals↗

Mouse thioredoxin gene maps on chromosome 4, whereas its pseudogene maps on chromosome 1.

Thioredoxins are involved in various biochemical systems and mediate both redox and nonredox functions. In mammalian cells, thioredoxin functions as an endogenous glucocorticoid receptor activating factor and as an adult T-cell leukemia-derived factor (ADF) that stimulates expression of interleukin-2 receptor in human T-cell leukemia virus (HTLV)-I transformed T cells. We have mapped the thioredoxin gene (Txn) and its processed pseudogene (Txn-ps1) in the mouse using a panel of interspecific backcross mice. Txn maps to Chr 4, whereas Txn-ps1 maps to the proximal region of Chr 1.

Animals↗

Isolation and mapping of human chromosome 21 cDNA: progress in constructing a chromosome 21 expression map.

We have isolated 175 cDNA clones from a fetal brain library by direct cDNA selection using genomic DNA isolated from pools of human chromosome 21 (HC21) cosmids. DNA sequences have revealed that 16 of these cDNA clones contain overlapping sequences. Of the other 159 cDNA sequences, 10 match previously identified HC21 genes, and 9 match previously determined cDNA sequences, including the Wilms tumor related transcript (QM), the human testican cDNA, the mammalian calponin cDNA, and 6 anonymous expressed sequence tags. All isolated cDNAs were hybridized to their corresponding cosmids, which suggests that they originated from HC21. We have localized 92 cDNA clones to previously reported HC21q YACs. The remaining unmapped cDNAs contain either sequences not included in the isolated HC21q YACs or sequences that hybridize to yeast DNA. The cDNAs not included in the YACs should be useful in isolating new YACs to bridge the gaps. PCR primers were derived from 4 novel cDNA sequences that had been mapped to the YACs in the suspected Down syndrome region and used in RT-PCR analysis. All 4 primer sequences amplified RNA fragments with the expected sizes, suggesting that these sequences could be used for expression analysis. The construction of a chromosome 21 cDNA map not only is important in the refinement of physical maps, but also will identify a set of genes in the disease regions for detailed characterization.

Base Sequence↗

A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.

The acronym CATCH22 is used to indicate collectively a group of related phenotypes, namely velocardiofacial syndrome (VCFS), DiGeorge anomaly (DGA), and conotruncal anomaly face, which are associated with deletions within 22q11.2 in the great majority of patients. A deletion map has allowed us to delimit a smallest region of deletion overlap, considerably smaller than the commonly deleted region. We have mapped within this region the chromosomal breakpoint of a balanced translocation patient presenting with a DGA/VCFS phenotype, making this region the strongest candidate for the location of the gene(s) responsible for the disease phenotype. We report a systematic gene search in this region and show the presence of at least six distinct transcripts, two of which have been previously described. The region searched was approximately 270 kb; therefore, an average of one transcript every 45 kb was found. We generated eight new ESTs and mapped two ESTs present in public databases. All six transcripts are expressed in heart, an organ involved in 70%-80% of CATCH22 patients. We show that the multimethod approach to search for expressed sequences is effective and indeed necessary for a comprehensive search and provides molecular tools for further characterization of the potential genes identified.

Abnormalities, Multiple↗