人类遗传学出版物中系谱符号的不一致性：标准化的必要性。

Inconsistencies in pedigree symbols in human genetics publications: a need for standardization.

作者信息

Steinhaus K A, Bennett R L, Resta R G, Uhrich S B, Doyle D L, Markel D S, Vincent V A

机构信息

Department of Pediatrics, University of California at Irvine, Orange 92613-1491, USA.

出版信息

Am J Med Genet. 1995 Apr 10;56(3):291-5. doi: 10.1002/ajmg.1320560314.

DOI:10.1002/ajmg.1320560314

PMID:7778593

Abstract

To determine consistency in usage of pedigree symbols by genetics professionals, we reviewed pedigrees printed in 10 human genetic and medical journals and 24 medical genetics textbooks. We found no consistent symbolization for common situations such as pregnancy, spontaneous abortion, death, or test results. Inconsistency in pedigree design can create difficulties in the interpretation of family studies and detract from the pedigree's basic strength of simple and accurate communication of medical information. We recommend the development of standard pedigree symbols, and their incorporation into genetic publications, professional genetics training programs, pedigree software programs, and genetic board examinations.

摘要

为了确定遗传学专业人员在系谱符号使用上的一致性，我们查阅了10种人类遗传学和医学期刊以及24本医学遗传学教科书中刊载的系谱。我们发现，对于诸如怀孕、自然流产、死亡或检测结果等常见情况，不存在一致的符号表示。系谱设计的不一致会给家族研究的解读带来困难，并削弱系谱在简单准确传达医学信息方面的基本优势。我们建议开发标准系谱符号，并将其纳入遗传学出版物、专业遗传学培训项目、系谱软件程序以及遗传学委员会考试中。