title: Reverse dot blot probes for the screening of beta-thalassemia mutations in Asians and American blacks.
abstract: We have optimized a battery of reverse dot blot oligonucleotide probes for detecting the most common beta-globin gene mutations in Asians and American Blacks. These probes allow a high degree of coverage of mutant chromosomes in these two populations and are useful in mutation screening and prenatal diagnosis. When coupled with the Mediterranean subset of probes, a 95% worldwide coverage of beta-thalassemia mutations should be possible. The use of these probes in the reverse dot blot system should allow the distribution of premade strips and application to automated screening.
authors.affiliation: Department of Laboratory Medicine, University of California, San Francisco 94143-0134.
authors.forename: S P
authors.initials: SP
authors.lastname: Cai
authors.forename: J
authors.initials: J
authors.lastname: Wall
authors.forename: Y W
authors.initials: YW
authors.lastname: Kan
authors.forename: F F
authors.initials: FF
authors.lastname: Chehab
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D044383:Black People / Q000235:genetics*; D004247:DNA / Q000097:blood; D005796:Genes / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D005914:Globins / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009693:Nucleic Acid Hybridization / Q000379:methods*; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D016036:Seroepidemiologic Studies; D014481:United States / Q000453:epidemiology; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D001741:Black or African American
chemical_list: D015345:Oligonucleotide Probes; D005914:Globins; D004247:DNA