Lin Chia-Ni, Pan Hui-Ping, Huang Mei-Chih
Department of Nursing, National Cheng Kung University.
Hu Li Za Zhi. 2008 Feb;55(1):87-93.
Inquiring of and gathering family history to establish a pedigree is the basic work to assess the health status of a whole family for clinical services or studies in genetics. Pedigrees, moreover, can show not only the disease circumstances of individuals but also the consanguinity/social relationships between the family members. They can be used to assist clinical professionals to make diagnoses and identify potential risk cases, to whom genetic counseling services could be provided. In addition, pedigrees can help researchers to discover novel genetic diseases and confirm the inheritance patterns and mechanisms. In education, through learning the skills for gathering the materials required to establish pedigree, students can develop the ability to assess the health status of each family member and identify the lifestyle or risk factors affecting health promotion. In addition, through their composition from simple symbols and lines, pedigrees are becoming an international language. Therefore, in 1995, the National Society of Genetic Counseling (USA) proposed recommendations for standardized human pedigree nomenclature. This article provides a brief introduction to standard pedigrees, as well as an account of a case to illustrate how to apply the nomenclature in practice. With the completion of the Human Genome Project in 2001, standardized pedigrees have undoubtedly become the best language through which medical or genomic professionals can communicate and share the latest discoveries.
询问并收集家族史以建立系谱是临床服务或遗传学研究中评估整个家族健康状况的基础工作。此外，系谱不仅可以显示个体的疾病情况，还能展示家庭成员之间的血缘/社会关系。它们可用于协助临床专业人员进行诊断并识别潜在的风险病例，为这些人提供遗传咨询服务。此外，系谱有助于研究人员发现新的遗传疾病并确定遗传模式和机制。在教育方面，通过学习收集建立系谱所需材料的技能，学生能够培养评估每个家庭成员健康状况以及识别影响健康促进的生活方式或风险因素的能力。此外，由于系谱由简单的符号和线条组成，它正成为一种国际通用语言。因此，1995年，美国国家遗传咨询协会提出了关于人类系谱命名标准化的建议。本文简要介绍了标准系谱，并通过一个案例说明如何在实践中应用该命名法。随着2001年人类基因组计划的完成，标准化系谱无疑已成为医学或基因组学专业人员进行交流和分享最新发现的最佳语言。
