Drayna D, White R
Science. 1985 Nov 15;230(4727):753-8. doi: 10.1126/science.4059909.
A database useful for mapping the human X chromosome has been established. The data consist of the genotypic characterizations obtained at more than 20 DNA marker loci from a set of 38 selected families. Multilocus linkage analysis has provided an initial genetic map completely spanning the distance from the distal short arm to the distal long arm of the chromosome, for a total genetic length of at least 185 recombination units. Analysis of the recombinational behavior of fully marked chromosomes suggests that the number of recombination events on the X chromosome may be nonrandom. Linkage studies of six families that carry the mutation which causes Duchenne muscular dystrophy were combined with linkage data from a large number of normal families. This permitted mapping of the locus for Duchenne muscular dystrophy with greater precision and statistical confidence than studies in which disease families alone provided the genotypic database. This observation suggests that the normal linkage map of this chromosome should be especially valuable in the mapping of rare X-linked diseases.
一个有助于绘制人类X染色体图谱的数据库已经建立。数据包括从38个选定家族的一组样本中，在20多个DNA标记位点获得的基因型特征。多位点连锁分析提供了一个初步的遗传图谱，该图谱完全覆盖了从染色体短臂远端到长臂远端的距离，总遗传长度至少为185个重组单位。对完全标记染色体的重组行为分析表明，X染色体上的重组事件数量可能是非随机的。对六个携带导致杜氏肌营养不良症突变的家族的连锁研究，与大量正常家族的连锁数据相结合。这使得杜氏肌营养不良症基因座的定位比仅使用患病家族提供基因型数据库的研究更精确，且具有更高的统计可信度。这一观察结果表明，该染色体的正常连锁图谱在罕见X连锁疾病的定位中应具有特别重要的价值。
