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At least 595 records · Page 33Linked to original sources
PubMed1979

Genetics, ontogeny, and testosterone inducibility of aldehyde oxidase isozymes in the mouse: evidence for two genetic loci (Aox-I and Aox-2) closely linked on chromosome 1.

"Null"-activity and low-activity variants for the liver supernatant isozymes of aldehyde oxidase (designated AOX-1 and AOX-2) were observed in inbred strains and in Harwell linkage testing stocks of Mus musculus. The genetic loci determining the activity of these isozymes (designated Aox-1 and Aox-2, respecitively) are closely linked on chromosome 1 near Id-1 (encoding the soluble isozyme of isocitrate dehydrogenase). Linkage data of Aox-1 with Id-1 and Dip-1 (encoding a kidney peptidase) demonstrated that this gene coincides with or is closely linked to Aox (Watson et al., 1972). Ontogenetic analyses demonstrated that liver AOX-1 appeared just before birth and increased in activity during postnatal development, whereas liver AOX-2 was observed only during postnatal development. Adult male livers exhibited higher AOX-1 and AOX-2 activities than adult female livers. Both isozymes were significantly reduced in activity by castration of adult males and increased following testosterone administration to castrated males and normal female mice.

Alcohol Oxidoreductases↗
PubMed1994

Monitoring international migration flows in Europe. Towards a statistical data base combining data from different sources.

"The paper reviews techniques developed in demography, geography and statistics that are useful for bridging the gap between available data on international migration flows and the information required for policy making and research. The basic idea of the paper is as follows: to establish a coherent and consistent data base that contains sufficiently detailed, up-to-date and accurate information, data from several sources should be combined.... The issues may be tackled more easily if the statistics that are being compiled are viewed as different outcomes or manifestations of underlying stochastic processes governing migration. The link between the processes and their outcomes is described by models, the parameters of which must be estimated from the available data.... The paper discusses the experience of the U.S. Bureau of the Census in combining migration data from several sources. It also summarizes the many efforts in Europe to establish a coherent and consistent data base on international migration." (SUMMARY IN FRE)

Americas↗
PubMed1992

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.

During a systematic chromosomal survey of 167 unrelated boys with the X-linked recessive Menkes disease (MIM 309400), a unique rearrangement of the X chromosome was detected, involving an insertion of the long arm segment Xq13.3-q21.2 into the short arm at band Xp11.4, giving the karyotype 46,XY,ins(X) (p11.4q13.3q21.2). The same rearranged X chromosome was present de novo in the subject's phenotypically normal mother, where it was preferentially inactivated. The restriction fragment length polymorphism and methylation patterns at DXS255 indicated that the rearrangement originated from the maternal grandfather. Together with a previously described X;autosomal translocation in a female Menkes patient, the present finding supports the localization of the Menkes locus (MNK) to Xq13, with a suggested fine mapping to sub-band Xq13.3. This localization is compatible with linkage data in both man and mouse. The chromosomal bend associated with the X-inactivation center (XIC) was present on the proximal long arm of the rearranged X chromosome, in line with a location of XIC proximal to MNK. Combined data suggest the following order: Xcen-XIST(XIC), DXS128-DXS171, DXS56-MNK-PGK1-Xqter.

Adult↗
PubMed2005

[Systematic drug documentation].

Medication histories as the most common way to document individual drug use provide a valuable database. Their main purpose is to check the patient's medication for so-called drug-related problems such as interactions, compliance problems, adverse drug reactions, and others. A second concern is to gain epidemiological evidence which increases the knowledge about benefits and risks of drugs including economic consequences. By referring to well-accepted principles of data protection, the documentation of drug use data has to be an essential part of complex care programmes which allows improvement of the individual drug therapy by reducing possible risks and increasing the therapeutic outcome of drug use more effectively. In addition, systematic drug documentation can be used to build structured databases which usually make use of prescription data. Given that principles of data protection, especially with regard to anonymity, are considered such databases provide an opportunity of data linkage with other health-related information such as health care services or number of sick leave days. Regardless of certain methodological limitations, these databases can also be used for health economics research and evaluation.

Computer Security↗
PubMed2002

Is the Mnr locus of Triticeae species the same as the Ndh and Dia loci?

The menadione reductase (MNR), the nicotinamide adenine dinucleotide dehydrogenase (NDH) and diaphorase (DIA) isozymes were studied in the allohexaploid Triticum aestivum cv "Chinese Spring" and in five diploid Triticeae species. The Mnr1, Ndh3and Dia1 loci were located on the chromosome arms 3AL, 3BL and 3DL of T. aestivum, respectively. These loci were also located on the 3H chromosome of Hordeum vulgare cv "Betzes", the 3L chromosome of Aegilops longissima and the 6RL chromosome arm of Secale cereale cv "Imperial". The chromosomal location results together with the segregation studies support a tetrameric behaviour of the MNR1, NDH3 and DIA1 isozymes. The Ndh1 and Dia3 loci were located on homoeologous group 4 showing a monomeric behaviour. The chromosomal locations and linkage data of the Mnr, Ndh and Dia loci suggest that Mnr1=Ndh3=Dia1; Ndh1=Dia3 and Ndh2=Dia2.

Journal Article↗
PubMed1996

A genetic linkage map of the rat derived from recombinant inbred strains.

We have constructed a genetic linkage map in the rat by analyzing the strain distribution patterns of 500 genetic markers in a large set of recombinant inbred strains derived from the spontaneously hypertensive rat and the Brown-Norway rat (HXB and BXH recombinant inbred strains). 454 of the markers could be assigned to specific chromosomes, and the amount of genome covered by the mapped markers was estimated to be 1151 centimorgans. By including a variety of morphologic, biochemical, immunogenetic, and molecular markers, the current map integrates and extends existing linkage data and should facilitate rat gene mapping and genetic studies of hypertension and other complex phenotypes of interest in the HXB and BXH recombinant inbred strains.

Animals↗
PubMed1998

Genetically determined neuropathies.

There have been major advances in the understanding of the genetically determined neuropathies in recent years. The underlying genetic defects are now known for many of the demyelinating hereditary motor and sensory neuropathies, and linkage data are available for some of the axonal hereditary motor and sensory neuropathies. This has important implications for both diagnosis and genetic counselling in this group of conditions. The genetic defect in most cases of familial amyloid polyneuropathy is also now known. In the most common form of familial amyloid polyneuropathy (FAP), transthyretin-related FAP, liver transplantation has been established as the first definitive treatment for a hereditary neuropathy and should be considered especially in young adult patients. This review will concentrate on the advances in the molecular genetics of the hereditary motor and sensory neuropathies, the hereditary sensory and autonomic neuropathies and the familial amyloid polyneuropathies with particular emphasis on the difficulties in classifying the first group.

Adult↗
PubMed2005

Antibiotic exposure and breast cancer in New Zealand.

Aims To investigate the hypothesis that use of antibiotics is related to subsequent development of breast cancer and also to apply this theory to other cancer types. Materials and methods A nested case-control study was conducted, using data linkage between the RNZCGP Research Unit database and the New Zealand Hospital Separation Diagnosis database. Cancer related hospital admissions were identified between 1998 and 2002, and prior antibiotic exposure in these patients was then found. Results A total of 6678 patients were identified with a newly diagnosed cancer in this time period. A slightly increased odds ratio (OR) (95% CI) for breast cancer was seen with penicillin, 1.07 (1.02-1.13). Penicillin was also associated with an increased OR with lung and respiratory cancer, 1.13 (1.06-1.21), and skin neoplasms, 1.05 (1.02-1.08). Significant associations were seen between macrolides and leukaemia, 1.15 (1.01-1.30), lung and respiratory cancers, 1.23 (1.10-1.38) and non-Hodgkin's lymphoma, 1.26 (1.02-1.55). Tetracyclines were significantly associated with non-Hodgkin's lymphoma, 1.12 (1.01-1.24). Cephalosporins only showed a significant association with leukaemia, 1.35 (1.06-1.71), sulphonamides with colorectal cancers, 1.12 (1.01-1.24), and 'other' antibiotic classes with bladder and renal cancers, 1.34 (1.07-1.67). Conclusions It is most likely that antibiotic exposure represents a confounding factor rather than a causation for breast cancer and other cancer types.

Aged↗
PubMed2004

Blood culture sampling rates at a German pediatric university hospital and incidence of invasive pneumococcal disease.

BACKGROUND: Recent pediatric surveillance studies suggest the incidence of pneumococcal bacteremia, but not meningitis, is lower in Germany than in most developed countries. Suboptimal case assessment in routine clinical practice has been suspected of contributing to this apparent discrepancy. METHODS: We aimed to assess the blood culture sampling rate at a German pediatric university hospital and the disease burden associated with pneumococcal bacteremia in children under 5 years of age. The study design was retrospective, based on data-linkage and chart review. RESULTS: Blood cultures were frequently obtained in sepsis (96%; CI 78-99%) and meningitis (95%; CI 77-99%), but less commonly in pneumonia (49%; CI 43-54%) and fever without focus (48%; CI 38-59%). Pneumococci were the most common source of clinically significant bacteremia in previously healthy children. CONCLUSION: These blood culture sampling rates may be insufficient for the sensitive detection of pneumococcal bacteremia. Epidemiological surveillance based on poorly standardized diagnostic practices is prone to under-assessment.

Age Distribution↗
PubMed1989

Yeast vacuolar aminopeptidase yscI. Isolation and regulation of the APE1 (LAP4) structural gene.

The structural gene, APE1, (LAP4), for the vacuolar aminopeptidase I of Saccharomyces cerevisiae was cloned with the aid of a staining technique which permitted monitoring of aminopeptidase activity in yeast colonies. Genetic linkage data demonstrate that integrated copies of the cloned gene map to the APE1 locus. The nucleotide sequence of the cloned gene was determined. The open reading frame of APE1 consists of 514 codons and, therefore, encodes a larger protein (MW 57,003) than the reported mature aminopeptidase yscI (MW 44,800), suggesting that proteolytic processing must occur. A 1.75-kb mRNA, which is made in substantial amounts only when yeast cells have exhausted the glucose supply, was identified.

Amino Acid Sequence↗
PubMed1996

The association between maternal serum alpha-fetoprotein and preterm birth, small for gestational age infants, preeclampsia, and placental complications.

OBJECTIVE: To determine whether high levels of serum alpha-fetoprotein (AFP) predict increased risk of adverse pregnancy outcomes, including preterm birth (before 37 weeks), preterm birth occurring at or before 28 weeks, small for gestational age (SGA) infant, preeclampsia, and placental abnormalities, and to determine whether low levels of serum AFP predict increased or decreased risk of these outcomes. METHODS: Using the mother's first name, last name, and zip code, we linked the records of 51,008 women who participated in the California Alpha-Fetoprotein Screening Program between June 15, 1986, and October 31, 1987, with California birth certificates for singleton infants born in 1987. The accuracy of the data linkage was confirmed by manually examining complete names, mother's ethnicity, and mother's age for a sample of 500 of the mother-infant linkages. Blood samples were obtained at 15-19 weeks. RESULTS: A strong gradient of increasing risk of preterm birth with increasing levels of serum AFP was observed (test for trend, P < .01). Among women with high levels of serum AFP (at least 2.5 multiples of the median [MoM]), 24.3% had preterm births, compared with 3.8% of women with low levels of serum AFP (0.81 MoM or less), odds ratio 8.7, 95% confidence interval 7.1-10.7). This gradient persisted when preterm infants of 28 weeks or less were examined separately. Similar gradients were observed for the risk of preeclampsia and placental abnormalities. There was a weaker U-shaped relation between serum AFP level and the risk of an SGA infant. CONCLUSION: Low levels of second-trimester maternal serum AFP are associated with a very low risk of preterm birth, preeclampsia, and placental complications. High levels of serum AFP are strongly associated with preterm birth, preeclampsia, and placental abnormalities. There is a modest association between AFP levels (both low and high) and SGA birth.

Adolescent↗
PubMed1991

The contribution of non-MHC genes to susceptibility to autoimmune diseases.

Genetic studies of experimental models of autoimmune diseases, including systemic lupus-like syndromes and organ-specific autoimmunity, provide major information on genetic control of autoimmune diseases. In addition to genes known to be linked to the major histocompatibility complex (MHC), these studies point to multiple genes located outside the MHC that influence the onset and the progression of autoimmune diseases. Identification of these genes and of their interrelationships is now a major task that will be facilitated by recent progress in molecular biology and gene mapping. Among candidate genes, antigen-receptor genes (i.e., immunoglobulin- and T-cell receptor genes) most likely contribute an important part of the autoimmune susceptibility in several of these animal models. Available linkage data suggest a similar involvement of these antigen-receptor genes in several human autoimmune diseases. In addition to a better understanding of pathogenic mechanisms associated with autoimmunity, the knowledge of these disease-predisposing genes is expected to permit a better classification of often complex syndromes as well as the design of new treatments.

Animals↗
PubMed1988

Health education and baseline data: issues and strategies in nutrition campaigning.

A central problem for health education is the lack of baseline data concerning relevant issues such as smoking, alcohol consumption or nutrition. In the absence of this information there is little detailed knowledge of the public's habits or willingness to change those habits. Furthermore, the social context and spatial variation of these factors is unknown. Often the only way in which suitable information can be acquired is through social surveys. This paper uses a case study of a nutrition survey to outline a general framework for the collection of baseline data. The approach centres around postcode based data linkage. The effectiveness of the approach is considered and its shortcomings noted.

Health Education↗
PubMed1995

Women's employment, marriage, motherhood and mortality: a test of the multiple role and role accumulation hypotheses.

Two contrasting hypotheses on the effects of combining marital, parental and work roles on mortality are analysed in this paper. The 'multiple role' hypothesis suggests that the effects are harmful, but the 'role accumulation' hypothesis argues that the benefits will outweigh the possible harmful effects. This paper uses record linkage data for all 35-64 year-old non-pensioned Finnish women to examine the two hypotheses. Women with all three roles of wife, mother and employee had low mortality. This, however, was a reflection of the main effects of these three variables. Only lone mothers with > 1 child--about 4% of the study population--were characterized as having a somewhat deviant mortality from what was to be expected on the basis of the main effects model. The high mortality in this group was mainly due to causes of death related to accidents and violence and circulatory diseases. Further analysis indicated that the excess mortality among lone mothers with two or more children and the lack of interactions for any other role constellation was similar in all age and educational groups. It is concluded that neither of the hypotheses on multiple roles are very relevant for the analysis of female mortality and that more attention should be devoted to understanding the contribution of possible selection effects leading to marriage and motherhood and the contribution of the 'healthy worker effect' in creating low mortality for the employed.

Adult↗
PubMed1990

Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.

Infantile neuronal ceroid-lipofuscinosis (CLN1) is the form of neuronal ceroid-lipofuscinoses (NCL) with the earliest onset of symptoms. The locus of the most common form of these disorders, juvenile NCL (CLN3), has been mapped to chromosome 16. We report here linkage data of the same region in Finnish CLN1 families. Our results indicate that CLN1 is not allelic with CLN3 but represents a different locus, which is not located within about 70 cM in chromosome 16.

Alleles↗
PubMed1991

A multilocus linkage map of mouse chromosome 8.

We present a genetic linkage map of mouse chromosome 8 that spans 53 cM and includes eight cloned loci. This map was derived from analysis of 100 progeny of an interspecific backcross between Mus spretus and Mus musculus domesticus. Genes that were mapped in this analysis include L7, Plat, Lpl, Ucp, Es, Mt-1, Um, and Tat. This analysis positions a new extremely proximal marker on chromosome 8, which is discussed as a potential candidate gene for the nervous locus. These linkage data will be useful for the mapping of additional loci on chromosome 8.

Animals↗
PubMed1991

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

Central core disease of muscle (CCD; MIM 117000) is a rare inheritable myopathy that is frequently found in association with susceptibility to malignant hyperthermia (MHS). This observation has prompted us to perform a linkage study in CCD families using various chromosome 19q probes that are linked to the MHS locus and map close to the ryanodine receptor gene (RYR1), a strong MHS candidate gene. Our genetic linkage data support a location of the CCD gene on proximal 19q13.1 and thus suggest that CCD and MHS may be allelic.

Alleles↗
PubMed1991

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

The major mutation in the cystic fibrosis (CF) gene is a 3-bp deletion (delta F508) in exon 10. About 50% of the CF chromosomes in Southern Europe carry this mutation, while other previously described mutations account for less than 4%. To identify other common mutations in CF patients from the Mediterranean area, we have sequenced, exon by exon, 16 chromosomes that did not show the delta F508 deletion from a selected panel of eight unrelated CF patients. We describe here one missense and one nonsense mutation, and four sequence polymorphisms. We have also found two previously reported mutations in three chromosomes. Overall, these mutations may account for about 20% of CF alleles in the Italian and Spanish populations. No other mutations were detected in 10 out of 16 CF chromosomes after analyzing about 90% of the coding region of the CF gene, and 39 out of 54 intron/exon boundaries. Therefore, about 26% of CF mutations remain to be identified. In addition we provide the intron/exon boundary sequences for exons 4 to 9. These results together with previously reported linkage data suggest that in the Mediterranean populations further mutations may lie in the promoter region, or in intron sequences not yet analyzed.

Base Sequence↗