Science. 1992 Oct 2;258(5079):67-86.
A genetic linkage map of the human genome was constructed that consists of 1416 loci, including 279 genes and expressed sequences. The loci are represented by 1676 polymorphic systems genotyped with the CEPH reference pedigree resource. A total of 339 microsatellite repeat markers assayed by PCR are contained within the map, and of the 351 markers with heterozygosities of at least 70%, 205 are microsatellites. Seven telomere loci define physical and genetic endpoints for 2q, 4p, 7q, 8p, 14q, 16p, and 16q, and in other cases distal markers on the maps have been localized to terminal cytogenetic bands. Therefore, at least 92% of the autosomal length of the genome and 95% of the X chromosome is estimated to be spanned by the map. Since the maps have relatively high marker density and numerous highly informative loci, they can be used to map disease phenotypes, even for those with limited pedigree resources. The baseline map provides a foundation for achieving continuity of clone-based physical maps and for the development of a truly integrated physical, genetic, and cytogenetic map of the human.
构建了人类基因组的遗传连锁图谱，该图谱包含1416个位点，其中包括279个基因和表达序列。这些位点由1676个多态性系统表示，这些系统通过CEPH参考家系资源进行基因分型。该图谱包含通过聚合酶链反应（PCR）检测的总共339个微卫星重复标记，在杂合度至少为70%的351个标记中，有205个是微卫星。7个端粒位点定义了2号染色体长臂、4号染色体短臂、7号染色体长臂、8号染色体短臂、14号染色体长臂、16号染色体短臂和16号染色体长臂的物理和遗传端点，在其他情况下，图谱上的远端标记已定位到末端细胞遗传学带。因此，估计该图谱覆盖了基因组至少92%的常染色体长度和95%的X染色体。由于这些图谱具有相对较高的标记密度和众多信息丰富的位点，它们可用于绘制疾病表型图谱，即使对于家系资源有限的情况也是如此。该基线图谱为实现基于克隆的物理图谱的连续性以及构建真正整合的人类物理、遗传和细胞遗传学图谱奠定了基础。
