Women’s Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis

Fragile X syndrome (FXS) is primarily due to a repeat expansion mutation found in the FMR1 X-linked gene. We have conducted a qualitative analysis of responses from women concerning their attitudes toward testing for carrier status of the fragile X mutation among reproductive-age women. We obtained responses from focus groups including women with and without FXS in their families. We found the following themes: (1) mothers of children with FXS have difficulty formulating their opinions on population screening because of their unique experiences surrounding their own carrier diagnosis and their relationship with their children with FXS, (2) the motivation for carrier testing and need for information differ by family history of FXS and parental status, and (3) the timing of carrier testing with respect to a woman’s life stage dictates whether carrier information will be viewed as beneficial or detrimental. There was evidence that non-carrier women from the general population would be wholly unprepared for positive carrier results. These findings have significant implications for genetic counseling as well as for population screening.     

EVOLUTION,CULTURE, AND SIN: RESPONDING TO PHILIP HEFNER'S PROPOSAL

Abstract. In his recent book, The Human Factor, Philip Hefner proposes to deepen theological understanding of the natural world and the place of humans within it. He describes humans as products of converging streams of genes and culture, and as possessors of freedom that requires them to be “created cocreators.” In accordance with the requirements of “the way things really are” (God), humans are to become divine agents in enlarging the realm of freedom in the world through self-sacrificing altruism. While Hefner's insights are admirable, his work could be viewed, in part, as a covert expression of nineteenth century liberal beliefs in progress. In fact, human culture and freedom are more ambiguous products of both good and evil, and hence we must take more cognizance of the pervasiveness of what theology has termed sin.     

Making the world a better place: Genes and ethics

This paper was presented as part of the 1993 Waynflete Lecture Series onGenes: Science, Law and Ethics, Magdalen College, Oxford University.     

发展性阅读困难的行为遗传学研究

发展性阅读困难是学龄儿童常见的学习障碍,其病源学问题极其复杂,很多行为遗传学家针对遗传和环境对阅读困难的影响进行了大量的研究。该文对阅读困难的行为遗传学研究进行了回顾,特别是综合介绍了分子遗传学研究所取得的重要成果及不足。最后指出了研究所面临的困难和将来的方向,并对与教育的关系进行了总结与评价。     

Genetic influences on core self-evaluations,job satisfaction,and work stress: A behavioral genetics mediated model

In this study we investigated the mediated influence of core self-evaluations (CSE) on employee health problems via job satisfaction and work stress, and the degree to which genetic factors explain these mediated relationships. Based on data obtained from a sample of 594 Swedish twins (114 monozygotic twin pairs and 183 dizygotic twin pairs), conventional path analysis results supported the mediated effects of CSE on employee health via job satisfaction and work stress, after controlling for conscientiousness and extraversion. Behavioral genetic analyses showed significant heritability of all four variables. Moreover, we found that the mediated relationships via job satisfaction and work stress are explained by genetic factors, such that the genetic source of job satisfaction and work stress mediates the genetic influence of CSE on health problems. These results highlight the role played by genetic factors in better understanding the relationships between CSE, work attitudes, and health outcomes.     

‘We Are All the Same,We All Are Mestizos’: Imagined Populations and Nations in Genetics Research in Colombia

In Colombia, as in other Latin American countries, current population genetics research is based on the understanding that Colombians constitute a mestizo nation, given the admixture process that took place between Africans, Amerindians, and Europeans during colonial times. The mestizo is a pervasive category used by geneticists to conduct, organise, and publish research studies that deal with the continent's peopling process and the genetic makeup of its contemporary population(s). It is also the dominant imaginary for the Colombian population and a key nation-building ideology. By tracing how this category moves and is used across four Colombian genetics laboratories, it is possible to discern that despite its apparently clear-cut boundaries, the mestizo is contingent, contested, and flexible, allowing for multiple understandings and usages. This flexibility and multiplicity are visible in the quantification of genetic ancestry, the divisions of geographical location, and the understanding of gender. Such understandings allow one to think about a homogeneous nation (inclusive) that is simultaneously heterogeneous (exclusive); they provide multiple but not necessarily contradictory possibilities of being mestizo, allowing the coexistence of images of the nation that could otherwise seem contradictory; and they permit navigation around contested terms such as race, while simultaneously thinking of mixed races or racialised individuals. Finally, these flexible and multiple constructions of the mestizo (re)produce various subjects as ‘other’, whether they are women, the Indigenous, the black/dark, or the poor.     

Image of God and personality pathology: An exploratory study among psychiatric patients

The associations between personality pathology according to DSM-IV, symptomatology and God image were examined among a group of 46 psychiatric patients. Features of personality disorders were assessed using the 'Questionnaire to Assess Personality Pathology', a self-report screener. God image was measured by means of the 'Questionnaire God Image'. Symptomatology was assesed by means of the SCL-90. The more personality pathology present, the more negative the image of God. The negative image of God appeared to be associated with personality pathology, in particular with pathology from the DSM-IV A- and C-cluster, even after controlling for the influence of symptomatology, suggesting that the association between symptomatology and the God image is mediated by personality pathology. When symptoms of the A-cluster are present God is experienced as detached and passive. When C-cluster symptoms prevail, God is experienced as a harsh judge. Results are discussed both from a psychodynamic object-relational as well as from a cognitive schema focused perspective.     

Examining cognitive development from a conceptual change point of view: The framework theory approach

Sexual socialization refers to how, through social interaction, an individual acquires and internalizes culture-specific knowledge, values and attitudes about sexuality. Little, however, is known about how an individual's genetic characteristics modify this process, or if individuals gravitate towards specific environments according to their genetic characteristics. The aim was to explore whether adolescents' genetic predispositions modify environmental influences on peer-group sexual attitudes. Using a Finnish population-based sample of twins and their siblings (n = 9534), it was found that genetic effects influenced peer-group sexual attitudes in men (52%) and women (46%), thus offering evidence for gene–environment correlation. Men showed less restricted peer-group sexual attitudes than women. Some indications of different genes influencing environmental exposure in men and women were found.     

Selective and sustained attention in children with spina bifida myelomeningocele

This study examined memory functioning in children and adolescents with 22q11.2 Deletion Syndrome (DS; velocardiofacial syndrome). An overall verbal better than nonverbal memory pattern was evident on the Test of Memory and Learning (TOMAL), with children with 22q11.2 DS performing significantly below their siblings and children with low average IQ but similar to children with autism on facial memory. Children with 22q11 DS also performed significantly below their siblings on tests of verbal working memory. Children with autism performed significantly poorer than the siblings of children with 22q11.2 DS only on their recall of stories. Delayed recall was significantly poorer in children with 22q11.2 DS and children with autism, compared to sibling controls. Although there were no significant group differences on tests of multiple trial verbal or visual learning, a relative weakness was noted with multiple trial visual learning in children with 22q11.2 DS and their siblings, suggesting that an alternative or interactive factor other than the deletion may account for the relatively better verbal compared to nonverbal memory abilities. Deficits in facial memory in children with both 22q11.2 DS and autism suggest disruptions in ventral temporal pathways such as between fusiform gyrus and parahippocampal/hippocampal regions whereas deficits in verbal working memory in children with 22q11.2 DS implicates dorsolateral prefrontal regions, both intimating aberrant white matter pathways.     

Attention Deficits in Children with < 750 gm Birth Weight

Although attention deficit disorders are frequently diagnosed in low birth-weight children, it is not clear if attention problems are apparent in neuropsychological testing. The present study examined the performances of a regional sample of 68 children with birth weights <750 gm on several psychometric measures of attention given at early school age. Matched groups of 65 children with birth weights between 750–1499 gm and 61 term controls were also assessed. The group <750 gm performed more poorly on one attention test than did either comparison group, even when overall cognitive ability was taken into account. Performances on the attention tests were also related to academic skills and ratings of behavior. Findings confirm the hypothesis that children with birth weights <750 gm have specific attentional weaknesses and support the validity of attention tests as predictors of learning and behavior problems.