Construction of a linkage map of the human genome, and its application to mapping genetic diseases.
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.
Green
P
P
Department of Human Genetics, Collaborative Research, Inc., Bedford, MA 01730.
Helms
C
C
Weiffenbach
B
B
Stephens
K
K
Keith
T
T
Bowden
D
D
Smith
D
D
Donis-Keller
H
H
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