RECOMMENDATIONS FOR STANDARDIZED HUMAN PEDIGREE NOMENCLATURE
RECOMMENDATIONS FOR STANDARDIZED HUMAN PEDIGREE NOMENCLATURE
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DOI：
10.1007/bf01408073
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发表时间：
1995-03-01
影响因子：
9.8
通讯作者：
HAMANISHI, J
中科院分区：
文献类型：
--
作者：
BENNETT, RL;STEINHAUS, KA;HAMANISHI, J
构建准确的家系是临床遗传学评估和人类遗传学研究的基本组成部分。之前对遗传咨询师和人类遗传学出版物的调查表明，在代表怀孕、终止妊娠、流产和收养等情况的常见谱系符号的使用上存在显著不一致，以及通过辅助生殖技术怀孕等不太常见的情况。谱系标准化工作队(PSTF)是通过全国遗传咨询师协会的专业问题委员会组织的，目的是为人类谱系命名的普遍标准制定建议。命名法是根据当前的使用情况、符号之间的一致性、计算机兼容性和符号的适应性来选择的，以反映人类遗传学的快速技术进步。初步建议在三次全国人类基因专家会议上提交供审查，并送交>；100人类基因专家审查。在这一审查过程的基础上，提出了PSTF关于标准化人类系谱命名的建议。通过将这些建议纳入医学遗传学专业培训计划、委员会检查、遗传学出版物和谱系软件，可以开始采用统一的谱系命名法。使用标准化的系谱命名法将减少对患者和家庭的医疗和遗传信息的错误解释的机会。它还可以提高由基因专业人员提供的患者护理的质量，并促进参与基因家族研究的研究人员之间的交流。
The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenarios such as pregnancies conceived through assisted reproductive technologies. The Pedigree Standardization Task Force (PSTF) was organized through the Professional Issues Committee of the National Society of Genetic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on current usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in human genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to >100 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigree nomenclature are presented here. By incorporating these recommendations into medical genetics professional training programs, board examinations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigree nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also improve the quality of patient care provided by genetic professionals and facilitate communication between researchers involved with genetic family studies.