Pajarola Sandra, Bachmann Ruxandra, Niedrist Dunja, Rauch Anita
Institut für Medizinische Genetik, Universität Zürich, Schlieren.
Praxis (Bern 1994). 2013 Nov 27;102(24):1457-65. doi: 10.1024/1661-8157/a001487.
The human genome consists of 23 pairs of chromosomes that contain 20 000-25 000 genes. Genetic disorders can be caused by different mechanisms, and therefore the confirmation of a suspected diagnosis requires knowledge of the underlying defect, so that the correct test can be applied. Monogenic diseases are caused by disturbances in a single gene, and currently only targeted diagnostic testing is available following a specific clinical suspicion. Chromosomal disorders usually involve multiple genes, so that the symptoms are often less specific. Specialists in Medical Genetics FMH are trained in creating a clinical genetic differential diagnosis, requesting the according laboratory test, interpretating the results and providing expert genetic counseling in presymptomatic and prenatal diagnosis. In Switzerland, specific legal principles and ethical guidelines must be taken into account.
人类基因组由23对染色体组成，其中包含2万至2.5万个基因。遗传疾病可由不同机制引起，因此要确诊疑似诊断需要了解潜在缺陷，以便应用正确的检测方法。单基因疾病由单个基因紊乱引起，目前只有在出现特定临床怀疑后才进行靶向诊断检测。染色体疾病通常涉及多个基因，因此症状往往不太具有特异性。瑞士医学遗传学FMH专家接受过以下方面的培训：进行临床遗传鉴别诊断、要求进行相应的实验室检测、解读结果以及在症状前诊断和产前诊断中提供专业的遗传咨询。在瑞士，必须考虑特定的法律原则和道德准则。
