Blumenfeld Olga O
Department of Biochemistry, Albert Einstein College of Medicine, 1300 Morris Park Avenue, New York, NY 10461, USA.
Transfus Med Rev. 2002 Apr;16(2):103-14. doi: 10.1053/tmrv.2002.31460.
Recent advances in molecular biology and technology have provided evidence, at a molecular level, for long-known observations that the human genome is not unique but is characterized by individual sequence variation. At the present time, documentation of genetic variation occurring in a large number of genes is increasing exponentially. The characterization of alleles that encode a variety of blood group antigens has been particularly fruitful for transfusion medicine. Phenotypic variation, as identified by the serologic study of blood group variants, is required to identify the presence of a variant allele. Many of the other alleles currently recorded have been selected and identified on the basis of inherited disease traits. New approaches document single nucleotide polymorphisms that occur throughout the genome and best show how the DNA sequence varies in the human population. The primary data dealing with variant alleles or more general genomic variation are scattered throughout the scientific literature and only within the last few years has information begun to be organized into databases. This article provides guidance on how to access those databases online as a source of information about genetic variation for purposes of molecular, clinical, and diagnostic medicine, research, and teaching. The attributes of the sites are described. A more detailed view of the database dealing specifically with alleles of genes encoding the blood group antigens includes a brief preliminary analysis of the molecular basis for observed polymorphisms. Other online sites that may be particularly useful to the transfusion medicine readership as well as a brief historical account are also presented.
分子生物学和技术的最新进展在分子水平上为长期以来已知的观察结果提供了证据，即人类基因组并非独一无二，而是以个体序列变异为特征。目前，大量基因中发生的遗传变异的文献记录正在呈指数级增长。对编码多种血型抗原的等位基因的表征在输血医学方面成果尤为丰硕。通过血型变异体的血清学研究确定的表型变异对于识别变异等位基因的存在是必需的。目前记录的许多其他等位基因是根据遗传疾病特征选择和鉴定的。新方法记录了全基因组中发生的单核苷酸多态性，并最能显示人类群体中DNA序列是如何变化的。处理变异等位基因或更普遍的基因组变异的原始数据分散在科学文献中，直到最近几年，信息才开始被整理到数据库中。本文提供了有关如何在线访问这些数据库的指导，这些数据库可作为分子、临床和诊断医学、研究及教学中遗传变异信息的来源。文中描述了这些网站的属性。专门处理编码血型抗原的基因等位基因的数据库的更详细视图包括对观察到的多态性的分子基础的简要初步分析。还介绍了对输血医学读者可能特别有用的其他在线网站以及简短的历史记述。
