Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Genetics and Reproduction”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,261 records · Page 70Linked to original sources
PubMed2004

Response to: A rational cure for pre-reproductive stress syndrome.

This response to "A rational cure for pre-reproductive stress syndrome" first suggests it is existence that is essential and prerequisite to everything good or bad, therefore it deserves to be protected and respected. Secondly, it argues that every life is worth living, even if it is worse than some other lives, if the only alternative is non-existence. Finally, it takes a critical view of and challenges Häyry's suggestion that in a good clinical situation, the idea of the irrationality of having children could be a legitimate part of the guidance given, since it is not the counsellor's or doctor's duty to advise a couple who wish to have children that it is irrational or even immoral to bring a child into life.

Attitude of Health Personnel↗
PubMed1996

Knowledge of adult patients with cystic fibrosis about their illness.

BACKGROUND: Adult patients need to understand their illness if the locus of control is to move from doctor to patient. Previous studies have shown important misconceptions and gaps in patients' knowledge about cystic fibrosis. METHODS: Patients were invited to complete a multiple choice questionnaire covering all major aspects of cystic fibrosis. The questionnaire score was compared with a predicted score derived from the consultant, cystic fibrosis fellow, nurse, and physiotherapist ratings of patient knowledge. Data were obtained to provide a comprehensive patient profile and disease severity score. Both scores were tested for any associations with patient characteristics. RESULTS: Although patients had good general knowledge about the aspects of cystic fibrosis that impacted most on their daily lives--that is, respiratory and gastrointestinal problems--important gaps and misconceptions in these areas were still present. Knowledge and understanding of genetic and reproductive issues and the less common complications of cystic fibrosis were only moderate. Older more severely affected patients, and those who had more contact with the hospital caring team, had better multiple choice questionnaire knowledge scores. Professional carers were poor judges of the knowledge of individual patients. CONCLUSIONS: Important gaps persist into adult life in the knowledge patients with cystic fibrosis have about their illness. Objective assessment of these deficits is required so that each patient can be counselled according to his or her needs.

Adolescent↗
PubMed2004

Molecular cytogenetic characterization of an alloplasmic durum wheat line with a portion of chromosome 1D of Triticum aestivum carrying the scs(ae) gene.

Triticum aestivum (2n = 6x = 42, AABBDD) with Triticum longissimum (2n = 2x = 14; S1S1) cytoplasm ((lo) cytoplasm) has normal fertility and plant vigor. However, the nucleus of durum wheat (Triticum turgidum (2n = 4x = 28, AABB)) is incompatible with the T. longissimum cytoplasm, producing non-viable progeny. This incompatibility is alleviated by scs(ae), a species cytoplasm-specific (scs) gene, on the long arm of chromosome 1D (1DL) of common wheat. The hemizygous (lo) durum scs(ae) line is male sterile and is maintained by crossing to normal durum wheat. After pollination, the seeds produced are either plump and viable (with scs(ae)) or shriveled and inviable (without scsae). Thus, the chromosome with scs(ae) is inherited as a whole without recombination. The objectives of this study were to characterize the chromosome carrying scs(ae) and to determine the process through which this gene was introgressed into the (lo) durum background. Molecular marker analysis with 27 probes and primers mapped to homoeologous group 1 and genomic in situ hybridization using differentially labeled total genomic DNA of durum wheat and Aegilops tauschii suggest the presence of a 1AL segment in place of the distal region of 1DL. Owing to the absence of any detectable duplications or deletions, homoeologous recombination is the most likely mechanism by which this introgression occurred.

Chromosome Mapping↗
PubMed1989

Transposable elements and fitness in Drosophila melanogaster.

Transposable elements constitute a significant fraction of the Drosophila melanogaster genome. The five families of moderately repeated transposable elements identified to date occupy dispersed and variable genomic locations, but have relatively constant copy numbers per individual. What effect to these elements have on the fitness of the individuals harboring them? Experimental evidence relating to this question is reviewed. The relevant data fall into two broad categories. The first involves the determination of the distribution of transposable elements in natural populations, by restriction mapping or in situ hybridization, and the comparison of the observed distribution with different theoretical expectations. The second approach is to study directly the effects of new transposable element-induced mutations on fitness. The P family of transposable elements is a particularly efficient mutagen, and the results of experiments in which initially P-free chromosomes are contaminated with P elements are discussed with regard to P-induced fitness mutations.

Animals↗
PubMed2005

Reward, motivation, and emotion systems associated with early-stage intense romantic love.

Early-stage romantic love can induce euphoria, is a cross-cultural phenomenon, and is possibly a developed form of a mammalian drive to pursue preferred mates. It has an important influence on social behaviors that have reproductive and genetic consequences. To determine which reward and motivation systems may be involved, we used functional magnetic resonance imaging and studied 10 women and 7 men who were intensely "in love" from 1 to 17 mo. Participants alternately viewed a photograph of their beloved and a photograph of a familiar individual, interspersed with a distraction-attention task. Group activation specific to the beloved under the two control conditions occurred in dopamine-rich areas associated with mammalian reward and motivation, namely the right ventral tegmental area and the right postero-dorsal body and medial caudate nucleus. Activation in the left ventral tegmental area was correlated with facial attractiveness scores. Activation in the right anteromedial caudate was correlated with questionnaire scores that quantified intensity of romantic passion. In the left insula-putamen-globus pallidus, activation correlated with trait affect intensity. The results suggest that romantic love uses subcortical reward and motivation systems to focus on a specific individual, that limbic cortical regions process individual emotion factors, and that there is localization heterogeneity for reward functions in the human brain.

Adolescent↗
PubMed2002

Implications of genetic testing for the insurance industry: the UK example.

This report summarises the controversy of genetic tests and insurance, with a focus on the UK situation during the past decade. UK experience provides insight for future strategies to help people with genetic disadvantages make insurance provision for themselves and their families. Non-disclosure of genetic test results (already carried out for clinical purposes) may not benefit people at risk of genetic disorders or with positive genetic tests. The pressure of geneticists over a decade to prevent disclosure to insurers may have masked opportunities to use insurance to provide help for people with genetic disadvantages. To seize the opportunities now, there must be collaboration, not conflict. Politicians, geneticists, social scientists and all elements of the insurance industry can contribute to wise solutions.

Advisory Committees↗
PubMed2004

The effect of cold storage on recombination frequencies in human male testicular cells.

Meiotic recombination is essential for the segregation of homologous chromosomes and formation of normal haploid gametes. Decreased recombination is associated with the production of aneuploid sperm in humans. MLH1, a DNA mismatch repair protein, was recently found to mark the sites of recombination in humans. Newly developed immunofluorescence techniques to identify MLH1 foci on synaptonemal complexes (SCs) in pachytene cells from testicular tissue have opened up a new avenue of research on meiotic recombination. Future studies on normal and abnormal recombination in early meiosis will further research in human reproduction and genetics. However, the availability of testicular material will always be a major limiting factor in this kind of study. In order to obtain an adequate number of samples and samples of particular research interest, it is often of benefit to obtain samples from distant regions. Therefore, it is necessary to determine whether the quality of samples and accuracy of MLH1 frequencies change after transporting testicular samples from a distance. In the present study, we examined the recombination frequencies (numbers of MLH1 foci using immunofluorescence techniques) in 6 normal testicular samples. Each sample was split and analyzed in the fresh state and after storage on ice for two days, mimicking overnight courier air transport. The results showed no significant difference in the quality of the SC preparations or in the number of MLH1 foci between these two groups. These results demonstrate that testicular specimens may be shipped on ice without compromising data on chromosome pairing and recombination in early meiosis.

Adaptor Proteins, Signal Transducing↗
PubMed2005

The patent is political: the consequences of patenting the BRCA genes in Britain.

OBJECTIVES: The paper explores the attempt by an American biotechnology company, Myriad Genetics, to use its patent rights over the BRCA genes to transfer its technology of genetic testing for breast and ovarian cancer to Britain. It also investigates the responses of British scientists, health care professionals and patient advocates to this attempted technology transfer. METHODS: This paper is based on approximately 100 in-depth interviews, document analysis and ethnographic observation conducted in the United States and Britain from 1998 to 2001. RESULTS: The BRCA gene patents inspired political resistance and mobilized opposition to the patenting of genes in general. They also provided an opportunity for the British to assert their national identity as they argued that a British BRCA testing service needed to be available within the context of the National Health Service to all citizens equally. CONCLUSIONS: Patents are not only legal documents and technical descriptions, but political tools as well. As they are increasingly deemed vital to economic globalization, patents have become mobilizing tools for anti-globalization activists and non-governmental organizations from less developed countries, and for asserting local and national identities.

Breast Neoplasms↗
PubMed2026

Systems genetics approaches model the heritable architecture of polyendocrine metabolic ovarian syndrome.

Polyendocrine metabolic ovarian syndrome (PMOS), formerly known as polycystic ovary syndrome (PCOS), is the most common endocrine disorder in women and is closely associated with complex diseases such as cardiovascular disease and type 2 diabetes. However, the mechanistic links between PMOS and its comorbidities remain poorly understood. Here, we present an integrative systems genetics platform that leverages genetic diversity in both mice and humans to dissect the drivers of PMOS and its associated complications. This framework uncovered conserved genetic and environmental factors underlying PMOS, identified susceptible cell types and organs, and elucidated mechanisms linking PMOS to subsequent pathologies. For instance, we showed that increased ovarian area contributes to both PMOS susceptibility and ovarian cancer progression, while specific ovary-heart signaling circuits modulate cardiac function with aging. We further identified ovarian SF3B1-mediated alternative splicing as a key mechanistic link between PMOS and metabolic traits. Pharmacologic inhibition of SF3B1 in mice reduced circulating testosterone, insulin, and glucose levels as well as fat mass expansion. Transcriptomics analysis of ovaries from mice and experiments using human cell lines localized these effects to exon skipping events in granulosa cells. Together, this study offers a mechanistic framework for modeling the diversity of PMOS pathologies and uncovers SF3B1-mediated splicing as a link between ovary function and systemic metabolism.

Female↗
PubMed2003

Watching the race to find the breast cancer genes.

This article focuses on a crucial development in genetic research that occurred in the 1990s: the identification of the first two of the genes responsible for hereditary breast and ovarian cancer (BRCA1 and BRCA2). Issues addressed touch on the evolution of the subfield, its potential impact on cancer treatment, and industry involvement. The article follows the activities of the various research groups competing in the race to identify the genes and depicts the frequent conflicts between them. Data are derived chiefly from a bibliometric database. The results show a diversity of research practices. Industrial researchers interacted within far more tightly knit networks than their counterparts working in public organizations. The patenting and commercial exploitation of results led to fierce battles, with one group capturing most of the benefits.

Bibliometrics↗
PubMed2004

Polymerase chain reaction-based genetic typing of Japanese porcine reproductive and respiratory syndrome viruses.

Porcine reproductive and respiratory syndrome viruses (PRRSVs) are classified into 2 distinct genotypes: the North American type and the European type. The Japanese PRRSVs were genotyped by reverse transcriptase-polymerase chain reaction using the reported primer pairs that were either reactive to both types, specific to the North American type or specific to the European type. All the PRRSV genomes from 66 tissue homogenates or sera and 55 infectious viruses were of the North American type, whereas no European-type viral genome was detected. Two PCR primers specific to the North American type showed different detection efficiency. Half of the tissue samples and 15% of the infectious viruses were not detected with one primer pair, although all of them were detected with the other primer pair. Nucleotide sequencing analysis of the forward-and reverse primer-binding sites of the nonreactive viruses indicated that all these viruses had nucleotide mismatches within the 4 bases corresponding to the 3' end of the reverse primer. These mismatches appeared to be responsible for the nonreactivity of the former primers to these viruses.

Animals↗
PubMedDate not supplied

Toxicity of excipients--a Food and Drug Administration perspective.

Excipients are essential components of drug products. They are also potential toxicants. Examples of known excipient-induced toxicities include renal failure and death from diethylene glycol, osmotic diarrhea caused by ingested mannitol, hypersensitivity reactions from lanolin, and cardiotoxicity induced by propylene glycol. Proposals to test or market new drug products in the United States should adequately address the safety of the proposed exposure to the excipients in those products. The specific safety data that may be needed will vary depending upon the clinical situation, including such factors as the duration, level, and route of exposure, but may include acute, repeat-dose, reproductive, and genetic toxicity data, carcinogenicity data, and specialized toxicology information, such as sensitization or local irritation data. Many guidances exist to aid in the development of pharmaceuticals, including the International Conference on Harmonization (ICH) documents and various Food and Drug Administration/Center for Drug Evaluation and Research (FDA/CDER) pharmacology and toxicology guidances. The FDA/CDER has recently adopted a new guidance for industry, "Nonclinical Studies for Development of Pharmaceutical Excipients," which focuses on issues associated with development of safety databases that will support clinical use of excipients in drug products. The new guidance document is introduced and discussed in this article.

Animals↗