Report of the committee on clinical disorders and chromosomal deletion syndromes.
Report of the committee on clinical disorders and chromosomal deletion syndromes.
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临床疾病和染色体缺失综合征委员会的报告。
DOI：
10.1159/000132670
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发表时间：
1988
期刊：
影响因子：
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通讯作者：
A. Schinzel
中科院分区：
文献类型：
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作者：
P. Harper;J. Frézal;M. Ferguson;A. Schinzel
近年来，对人类基因图谱临床方面的兴趣迅速增长。新的分子技术不仅提供了从连锁标记中分离遗传病基因的可能性，而且连锁DNA多态性在产前诊断、携带者检测和其他形式的遗传预测中也有实际应用。这些发展也意味着基因图谱数据，特别是HGM报告，对于大量临床遗传学家和其他参与人类遗传性疾病的人来说非常重要，他们的主要兴趣不是基因图谱本身。到目前为止，除了临床表型本身是分配的基础之外，关于疾病状态的信息还没有包括在关于个体染色体的HGM报告中。我们建议改变这一政策，以便在数据可用和相关的所有位点都出现相关疾病的信息。这也将为临床数据的系统收集和验证提供基础，这些数据可以以综合形式出现在本报告的未来版本中。虽然在HGM 10之前，格式的重大变化是不可行的，但委员会在表格中引入了一些新的发展，希望能增加它们的价值，特别是除了映射疾病的主要表格（表1）之外，还增加了关于染色体缺失（表2）和易位（表3）的特定表格。由于表1的长度，此处不再重复。可向威尔士大学医学院医学遗传学部Peter哈珀博士（Heath Park，卡迪夫CF 4 4XN，Wales）索取该表格。完整的表格将在HGM 10会议记录中列出。表1主要基于GEN ATLAS数据库，我们感谢Marie-Sophie Baule在会议之前和会议期间所做的工作;我们还严重依赖人类孟德尔遗传和个别染色体委员会的信息。应当指出的是，由于目前所使用的数据库与这些委员会的数据库是分开的，因此在命名和分配方面可能存在一些差异，尽管已试图消除或解决大多数差异。第一列给出了最常用的疾病名称，而第2列（MIM）给出了人类孟德尔遗传参考号。第3列是公认的HGM基因符号，而第4列给出已知的基因产物，这再次对应于HGM基因座命名法。第5列给出了
Interest in the clinical aspects of the human gene map has grown rapidly in recent years. Not only do new molecular techniques offer the possibility of isolating the gene for a genetic disorder from linked markers, but there are practical applications of linked DNA polymorphisms in prenatal diagnosis, carrier detection and other forms of genetic prediction. These developments also mean that gene mapping data, and in particular the HGM reports, are of importance to a larger number of clinical geneticists and others involved in human genetic disorders whose primary interest is not gene mapping itself. Until now information on disease status has not been included in the HGM reports on individual chromosomes except where the clinical phenotype has itself been the basis of the assignment. We recommend that this policy should change, so that information on associated diseases should appear for all loci where data are available and relevant. This will also provide a basis for systematic collection and validation of clinical data which can appear in an integrated form in future versions of this report. While major changes in format will not be feasible until HGM 10, the committee has introduced several developments in the tables which it is hoped will increase their value, in particular the addition of specific tables on chromosomal deletions (Table 2) and translocations (Table 3) in addition to the principal table of mapped disorders (Table 1). Due to the length of Table 1, it is not reproduced in here. This table will be available upon request from Dr. Peter Harper, Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, Wales. The full table will be present in the proceedings for HGM10. Table 1 is based principally on the GEN ATLAS data base and we are grateful to Marie-Sophie Baule for her work before and during the meeting; we have also relied heavily on information from Mendelian Inheritance in Man and from individual chromosome committees. It should be noted that since the database used is at present separate from that of these committees, some differences in nomenclature and assignment may be present, though an attempt has been made to remove or resolve most discrepancies.In using Table 1, the following points may be of help. The first column gives the disease name as most generally used, while column 2 (MIM) gives the Mendelian Inheritance in Man reference number. Column 3 is the accepted HGM gene symbol, while Column 4 gives the gene product when known, this again corresponding to the HGM locus nomenclature. Column 5 gives the