繪出世界共通圖畫－－家族圖譜之構成與評估

Drawing up Pedigrees: Symbols and Meanings

家族圖譜的詢問、收集資料與繪製，是臨床醫療照護及相關遺傳研究最基本的評估及溝通方式，並且可清楚簡單地表達各成員間疾病與血緣／社會關係。應用家族圖譜可協助專業人員診斷，藉由遺傳型態並找出潛在個案，提供遺傳諮詢，研究上可協助發現並確認遺傳機轉；而教學方面，透過學習圖譜資料收集方式，可訓練家庭評估能力，並找出影響健康促進之生活形態或危險因素。此外，圖形與線條的呈現方式使其成為國際間共同語言，並於1995年由美國遺傳諮詢學會的標準化家族圖譜工作小組提出建議準則。本文即對此概略描述，並以案例實際繪製幫助瞭解，在2001年人類基因體定序完成後，後基因體時代的今日，標準化的圖譜無疑是醫學或遺傳學領域交流與溝通無遠弗屆的最佳語言。

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.