The Status of the Gene Map of the Human Chromosomes

作者：Victor A. McKusick, Frank H. Ruddle · 发表于：Science · 年份：1977 · DOI：10.1126/science.850784 · 被引用次数：340 · 研究领域：DNA Repair Mechanisms、Molecular Biology Techniques and Applications、Genomic variations and chromosomal abnormalities

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.