Chromosomal Location of
Human Genetic Diseases
Nowhere is the growth of knowledge about disease-
causing mutations in human genes more
apparent than in the mapping of their locations
to specific sites on individual chromosomes.
This progress is documented in twelve published
editions of Mendelian Inheritance in
Man. A Catalog of Human Genes and Disorders
(MIM) by Victor A. McKusick, M.D., at the Johns
Hopkins University School of Medicine. Initiated
in the early 1960s, its first edition in 1966
contained a total of 1487 entries without a
single autosomal gene mapped. This was
achieved in 1968 at the time of the second edition
(1545 entries). The subsequent editions reveal
an entry-doubling time of about 15 years
(3368 in the 6th edition (1983), 5710 entries in
the 10th edition (1992), 8587 entries in the 12th
edition (1998) and 10848 on 21 September
1999 (Hamosh et al., 2000). Since 1987 the
McKusick catalog is internationally available
online from the National Library of Medicine
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