The principle and technique of drawing family pedigree

Speaker: Prof. Mei-Chih Huang

Date: September, 2013

Objectives

• Understand the application field of family pedigree.

• Understand the pedigree standardized process.• Familiar the definition of pedigree’s symbol

and line.• Familiar the technique of asking and drawing

family pedigree.• Drawing the family pedigree.

The importance of family pedigree and application

• The universal communication tool between different specialty.• Clinical care

-Help diagnose and confirm genotype in order to find the potential case.

-Represent family member’s health status and pregnancy/ reproductive situation.• Research

-Help find the cause of genetic disease.• Teaching

-Help train student’s family evaluation ability based on the data collection and find the risk factor that affect health.

Standardization reason• There are discrepancies even in common

symbols used to record a genetic family history.

• No consensus was noted in recording situations representing assisted reproductive technologies.

• Standardization of pedigree nomenclature is important, much as it was useful to develop universal cytogenetic nomenclature.

（ Bennett et al., 1995 2008; Rice, 1946）

Standardization reason

• In 1995, the Pedigree Standardization Task Force (PSTF) of the National Society of Genetic Counselors (NSGC) proposed a system of pedigree nomenclature.(now called the Pedigree Standardization Work Group or PSWG)

• Frequent usage, consistency among symbols, computer compatibility, and ability to adapt to the rapid changes in human genetics were considered.

（ Bennett et al., 1995 2008; Rice, 1946）

Common Pedigree Symbols, Definitions, and Abbreviations.

Common Pedigree Symbols, Definitions, and Abbreviations.

Pedigree Line Definitions

Pedigree Line Definitions

Pedigree Line Definitions

Assisted Reproductive Technology Symbols and Definitions.

Assisted Reproductive Technology Symbols and Definitions.

張性夫婦，先生 62 歲，太太 60 歲，曾懷孕 4 次，育有三男兩女。長女為領養現 40 歲未婚，長男 37 歲，太太 35 歲，懷孕 2 次，第一次懷孕時超音波檢查異常，染色體檢查為三染色體 18 症，於 20 週時實施人工流產，現懷孕中，胎兒性別未知。次男 35 歲未婚，次女 33 歲先生 35 歲，曾懷孕 1 次有一對雙胞胎 3 歲女兒。三男 30 歲和 29 歲之妻子以生殖科技接受精子銀行之精子，目前懷孕中，胎兒性別不明。 張先生的父親於 78 歲時因肝癌過世，母親今年86 歲，患有高血壓。張先生的大哥 44 歲時因糖尿病過世，大姊 63 歲未婚，小妹 60 歲，患有高血壓。 張太太的父親 80 歲時過世，患有腦血管疾病，母親 83 歲，患有糖尿病及高血壓。大弟 53 歲、大妹50 歲、二妹 48 歲，小弟 45 歲患有糖尿病。

c

86 72 84

67

糖尿病

62血友病

65 4462

57 5455

4446 30 39 39

車禍

卵巢癌 62

36 32

I

III

II

IV13 6

案例分析案例分析

10IV-1 IV-2

IV-3 IV-47

Reference

Reference

王作仁 (1987) ．家譜構成要訣．遺傳諮詢與家譜構成（ pp. 65-75 ）．台北：聯經。林佳霓、潘慧萍、黃美智（ 2008 ）‧繪出世界共通圖畫 - 家族圖譜之構成與評估‧護理雜誌 55 （ 1 ） , 87-93 ‧

[Lin, C. N., Pan, H. P., & Huang, M. C.* (2008). Drawing up pedigrees: Symbols and meanings. The Journal of

Nursing, 55(1), 87-93.]

Bennett, R.L., French, K. S., Resta, R. G., & Doyle, D. L. (2008). Standardized human pedigree nomenclature: Update

and assessment of the recommendations of the national society of genetic conselors. Journal of Genetic

Counseling, 17(5), 424-433.

Beauchesne, M., Kelley, B., & Gauthier, M.A. (1997). The genogram: A health assessment tool. Nurse Educator, 22(3),

9, 16.

Bennett, R.L., Steinhaus, K.A., Uhrich, S.B., O'Sullivan, C.K., Resta, R.G., Lochner-Doyle, D., Markel, D.S., Vincent,

V., & Hamanishi, J. (1995). Recommendations for standardized human pedigree nomenclature. Pedigree

Standardization Task Force of the National Society of Genetic Counselors Comment in: American Journal of

Human Genetics, 56(3), 745-752.

Curtis, D. (1990). A program to draw pedigrees using LINKAGE or LINKSYS data. Annals of Human Genetics, 54(4),

365-7.

Gelehrter, T.D., Collins, F.S., & Ginsburg, D. (1998). Principles of medical genetics (2nd ed., p. 24). Baltimore:

Williams & Wilkins.

Jorde, L.B., Carey, J.C., Bamshad, M.J., & White R.L. (1999). Medical genetics (2nd ed., p. 64). New York: Mosby.

Rich, L.R. (1946). Symbols for human Pedigree charts. Journal of Heredity, 37, 11-15.