Duchenne型肌营养不良症植入前遗传学诊断研究进展

植入前遗传学诊断是在胚胎着床前确定其遗传物质是否正常 ,从而决定该胚胎能否移植的一门新兴技术 ,该技术已应用于性别、单基因遗传病及染色体遗传病的诊断。目前世界上已有两百多个正常婴儿通过植入前诊断技术诞生 ,该资料回顾了DMD植入前诊断技术的发展 ,并对其技术路线及目前存在的问题及解决方法进行综述。     

Biochemical genetic analysis of human and rodent aldehyde dehydrogenase (ALDH)

ALDH isozymes have been characterized in terms of substrate and coenzyme specificity, heat stability, tissue distribution and electrophoretic properties. The activity of the isozymes has also been examined in rodent-human somatic cell hybrids in order to map the structural genes to specific chromosomes and to study the control of gene expression. One isozyme, designated ALDH3, which is very active against benzaldehyde, was found to show variable expression in hybrids made between rat hepatoma cells and human fibroblasts or fetal liver. Segregation analysis of these hybrids indicates that the structural locus for human ALDH3 may be on chromosome 17. The expression of rodent ALDH3 in these hybrids was extremely variable and not correlated with the appearance of the human enzyme. In hybrids expressing human and rodent ALDH3 no heteromeric isozymes were observed. The human "cytosolic" ALDH1 and "mitochondrial" ALDH2 isozymes did not appear to be expressed in any of the somatic cell hybrids examined.     

Complex syndromes, ambivalent diagnosis, and existential uncertainty: the case of Systemic Lupus Erythematosus (SLE)

Systemic Lupus Erythematosus (SLE), also known as lupus, is an autoimmune disorder which is difficult to diagnose due to its manifold symptoms. Its complexity is part and parcel of the epistemological changes that scientific biomedicine is undergoing which in turn influence clinical practice. These changes lead to the well known and often-discussed frustration of patients who suffer from elusive disorders, long-term or chronic illnesses, and medically unexplained symptoms. Using ethnographic observations in combination with grounded theory methods this study explores SLE as one example of complex syndromes that the clinical practice of late modernity seems to bring about. It concentrates on the difficulties of diagnosing complex disorders from a medical point of view, then goes on to describe the impact this has on patients' lives, and their reaction to this situation. I argue that ambivalent diagnosis leads to existential uncertainty amongst patients which in turn influence the doctor-patient relationship. In concluding, I suggest that medical sociology has to move from merely describing and analysing this emerging situation to suggesting strategies for integrating experiential knowledge into clinical practice, especially when it comes to medical and personal management of chronic disorders such as SLE.