title: Construction of a linkage map of the human genome, and its application to mapping genetic diseases.
abstract: A powerful method for localizing the genes responsible for genetic diseases is to "mark" each chromosomal region so as to permit its inheritance to be tracked in families carrying the disease; the disease gene must lie in the same region as any marker with which it is co-inherited. Chromosomes can be efficiently marked in this way by using restriction fragment length polymorphisms (RFLPs). We describe the construction of a map of the human genome with over 550 RFLP markers, such that over 95% of the genome is detectably linked to one or more of these markers. This map will make possible efficient searches for genes underlying a variety of disorders, both simple and complex, and lead to the development of presymptomatic diagnostic tests for these diseases.
authors.affiliation: Department of Human Genetics, Collaborative Research, Inc., Bedford, MA 01730.
authors.forename: P
authors.initials: P
authors.lastname: Green
authors.forename: C
authors.initials: C
authors.lastname: Helms
authors.forename: B
authors.initials: B
authors.lastname: Weiffenbach
authors.forename: K
authors.initials: K
authors.lastname: Stephens
authors.forename: T
authors.initials: T
authors.lastname: Keith
authors.forename: D
authors.initials: D
authors.lastname: Bowden
authors.forename: D
authors.initials: D
authors.lastname: Smith
authors.forename: H
authors.initials: H
authors.lastname: Donis-Keller
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length