The use of dinucleotide microsatellites in high-throughput, semi-automated genome mapping

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134711

Parry, P; Le Duc, C; Garner, C ^[1]

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1. Sequana Therapeutics Inc., La Jolla, CA (United States); and others

Microsatellites are tandem repeats of simple sequences that occur frequently and at random throughout the human genome. These highly polymorphic markers are flanked by unique sequences which makes them amenable to PCR amplification. Since the microsatellite polymorphism is stable and is inherited in a Mendelian fashion these sequences can be used as highly informative genetic markers. PCR primers can be labeled with one of the four currently available fluorescent dyes. After PCR the products are separated on acrylamide gels. Using a scanning laser and commercially available software primers labeled with different dyes alleles can be distinguished even when their sizes overlap. Allele sizes are reproducibly and accurately determined. We have developed an efficient process, employing currently available technology, to determine accurately large numbers of human genotypes. We are now able to define thousands of individual genotypes per technician per day. This information can be used in genetic studies to define linkage to common human diseases.

• OSTI ID: 134711
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

44 INSTRUMENTATION
INCLUDING NUCLEAR AND PARTICLE DETECTORS
55 BIOLOGY AND MEDICINE
BASIC STUDIES
ACCURACY
AUTOMATION
BIOLOGICAL MARKERS
DETECTION
DNA SEQUENCING
EFFICIENCY
FLUORESCENCE
GENES
GENETIC MAPPING
GENOTYPE
HEREDITARY DISEASES
HUMAN POPULATIONS
NUCLEOTIDES
POLYMERASE CHAIN REACTION
SIZE
STATISTICS