Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons

William S. Oetting, James P. Fryer, Yasuhisa Oofuji, Lyle R. Middendorf, John A. Brumbaugh, C. Gail Summers, Richard A. King

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

The ability to correctly diagnose the molecular cause of genetic diseases is becoming increasingly important in medicine. This requires an efficient method for the analysis of the DNA sequence of specific genes and the detection of mutations in affected individuals. We report a method to determine the mutations responsible for tyrosinase related albinism (OCA1) using a combination of polymerase chain reaction‐single stranded conformational polymorphism (PCR‐SSCP) analysis and direct DNA cycle sequencing using fluorescently labeled oligonucleotides and an automated DNA sequencer based on infrared fluorescence technology. This method allows DNA from several individuals to be sequenced quickly and simultaneously so that the specific location of each mutation and the carrier status of family members can be determined.

Original languageEnglish (US)
Pages (from-to)159-164
Number of pages6
JournalELECTROPHORESIS
Volume15
Issue number1
DOIs
StatePublished - 1994

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