McKusick V A, Ruddle F H
Science. 1977 Apr 22;196(4288):390-405. doi: 10.1126/science.850784.
In man, the specific chromosome that carries each of about 210 gene loci is known. These loci include at least one assigned to each chromosome (including the Y), about 110 assigned to specific autosomes, and about 100 to the X chromosome. For many loci, information on regional chromosomal localization is also available. The information comes mainly from studies in families and somatic cell hybrids, as well as an intgratsight of results from the two methods. Knowledge of the chromosome map gives insight into evolution, chromosomal organization in relation to genetic control mechanisms, and the pathogenesis of neoplasms and malformations. Furthermore, it is useful in prenatal or premorbid diagnosis of hereditary diseases.
在人类中,携带约210个基因位点中每一个位点的特定染色体是已知的。这些位点包括至少一个分配给每条染色体(包括Y染色体)的位点,约110个分配给特定常染色体的位点,以及约100个分配给X染色体的位点。对于许多位点,关于区域染色体定位的信息也可获得。这些信息主要来自家族研究和体细胞杂种研究,以及这两种方法结果的综合观察。染色体图谱的知识有助于深入了解进化、与遗传控制机制相关的染色体组织,以及肿瘤和畸形的发病机制。此外,它在遗传性疾病的产前或病前诊断中很有用。