Detection of new mutation disease in man and mouse.
Recent developments in molecular biology technology have greatly facilitated the methods for detection of mutations responsible for genetic disorders in both humans and animals. In this article we review some of these new methods and present a diagnostic algorithm that facilitates the routine and rapid diagnosis of any genetic disorder for which the defective gene has been isolated.
Grompe
M
M
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Gibbs
R A
RA
Chamberlain
J S
JS
Caskey
C T
CT
D000818:Animals; D001483:Base Sequence; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D051379:Mice; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods