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Selected AbstractsRapid haplotype reconstruction in pedigrees with dense marker mapsJOURNAL OF ANIMAL BREEDING AND GENETICS, Issue 1 2004J. J. Windig Summary Reconstruction of marker phases is not straightforward when parents are untyped. In these cases information from other relatives has to be used. In dense marker maps, however, the space of possible haplotype configurations tends to be too large for procedures such as Monte Carlo Markov chains (MCMC) to be finished within a reasonable time. We developed an algorithm that is fast and generally finds the most probable haplotype. The basic idea is to use, the smallest informative marker brackets in offspring, for each marker interval. By using only information from the offspring and analysing each marker interval separately, the lengthy analysis of large numbers of different haplotype configurations is avoided. Nevertheless the most probable haplotype can be found quickly provided the marker map is dense and enough offspring are available. Simulations are provided to indicate how well the algorithm works at different combinations of marker density, number of offspring and number of alleles per marker. In situations where the algorithm reconstruction of the most probable haplotype is not guaranteed, the algorithm may still provide a haplotype close to the optimum, i.e. a suitable starting point for numeric optimization algorithms. Zusammenfassung Die Rekonstruktion der Kopplungsphasen von Markern ist nicht unkompliziert, wenn die Typisierung der Eltern fehlt. In derartigen Fällen müssen Informationen von Verwandten genutzt werden. In dichten Markerkarten tendiert der Bereich für mögliche Haplotypenkonfigurationen jedoch dazu, zu groß zu werden, um Verfahren wie Monte Carlo Markov Chains (MCMC) in einem angemessenen Zeitrahmen anzuwenden. Wir entwickelten einen Algorithmus, der schnell ist und im Allgemeinen die wahrscheinlichsten Haplotypen findet. Die grundlegende Idee dabei bestand darin, für jeden Markerintervall erstfolgende informative Markern am linker und rechter Zeite in den Nachkommen zu nutzen. Durch die ausschließliche Nutzung von Nachkommeninformationen und durch die separate Analyse von Markerintervallen, wird die langatmige Analyse großer Anzahlen unterschiedlicher Haplotypenkonfigurationen umgangen. Dennoch kann der wahrscheinlichste Haplotyp schnell gefunden werden, vorausgesetzt die Markerkarte ist dicht und ausreichend Nachkommen sind verfügbar. Simulationen werden zur Verfügung gestellt, um zu zeigen wie gut der Algorithmus bei unterschiedlichen Kombinationen von Markerdichte, Anzahl von Nachkommen und Allelen pro Marker arbeitet. In Situationen, wo die algorithmische Rekonstruktion des wahrscheinlichsten Haplotypen nicht garantiert werden kann, kann der Algorithmus dennoch einen Haplotypen nahe des Optimums bereitstellen, z.B. einen geeigneten Startpunkt für numerische Optimierungsalgorithmen. [source] Renal transplantation in children: Psychological and donation-related aspects from the parental perspectivePEDIATRIC TRANSPLANTATION, Issue 4 2000Helena M. E. Kärrfelt Abstract: Parent(s) accompanying their 18 children to the annual medical follow-up after renal transplantation were interviewed by a child psychiatric social worker. Thirteen of the children had received their grafts from one of their parents, two from other relatives, and three from cadaveric donors. The aims of this interview were to study the decision-making process regarding donation, and the consequences, reflections, and psychological reactions from the parental perspective. Although most parents reported improved psychosocial functioning of the family, many parents also reported significant psychological distress, in many cases complicated by unemployment related to the care of the child. Most parent donors reported that the relationship with their child had improved. For most parents, the decision about the donation seemed to have been a matter of course. However, the process may have induced suffering in those parents who had felt obliged to donate. Thus, questions regarding donation must be approached in a professional and non-judgmental manner when parents are informed about the preconditions of transplantation. The present results indicate a need of psychosocial support for all families during the transplantation process. Therefore, a psychologist and a social worker have been included in the pediatric nephrology team at our unit. The donors also require further information concerning the operative details as well as in regard to the post-operative pain. [source] Addressing elder abuse: Western Australian case studyAUSTRALASIAN JOURNAL ON AGEING, Issue 1 2005Duncan Boldy Objective:,To explore the extent of elder abuse in Western Australia and associated aspects, such as the relationship of the abuser to the victim, risk factors and desirable interventions, and current knowledge and use of relevant protocols. Methods:,A mail-out questionnaire was sent to over 1000 organisations and 129 general practitioners (GPs). Recipients were asked to identify any known or suspected cases of elder abuse encountered during the previous 6 months. Results:,The estimated prevalence of elder abuse was 0.58% (in individuals 60+ years). Females and those 75 years and older were more at risk than males or those younger. Financial abuse was the most common, and frequently more than one type of abuse was suffered by the same person. The main abusers were adult children or other relatives. Conclusion:,The importance of education targeted at professionals, the general public and older people themselves was evident. Important direct interventions identified included respite care, advocacy and counselling. [source] Prenatal diagnosis for risk of spinal muscular atrophyBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 11 2002I. Cuscó Objectives Prenatal diagnosis of spinal muscular atrophy is usually performed in high risk couples by detection of a homozygous deletion in the survival motor neurone gene (SMN1). However, other relatives at risk of being carriers very often request genetic counselling and the possibility of prenatal diagnosis. The aim of this study was to validate a SMN1 gene quantitative test to help the couples formed by one spinal muscular atrophy carrier and a partner of the general population (1/200 potential risk) to achieve a less ambiguous risk result for the pregnancy. Design Spinal muscular atrophy carrier studies in at-risk individuals. Setting Department of Genetics and Gynaecology and Obstetrics in a large university hospital. Population Seventy-nine obligate carriers (more than one affected child with deletion in the offspring) and 58 non-carriers (relatives of spinal muscular atrophy families defined by marker studies) were tested to set up a quantitative analysis. The method was applied in different situations in 126 members from 34 families with spinal muscular atrophy patients. Methods DNA studies of the SMN1 gene by marker analysis and quantitative assay. Main outcome measures To determine double (non-carrier) or single dose (carrier) of exon 7 of the SMN1 gene in relatives of spinal muscular atrophy patients. Bayesian calculation of risk. Results The sensitivity and specificity of the method were 96% and 100%, respectively. Studies on different couples with an a priori risk of 1/200 allowed us to reduce the final risk to 1/5000 or to increase it to 1/4. Conclusions The quantitative method can be used to achieve a less ambiguous risk in pregnancies with a 1/200 risk and in families where no sample is available to study the index case. Screening of gamete donors when the recipient is a known carrier should also be considered. [source] | ||||||||||