title: The nucleotide: DNA sequencing and its clinical application.
abstract: Information determining cellular structure and function is contained in chromosomal DNA. Genes, regions of DNA encoding this information, are composed of specific sequences of nucleotides. DNA sequencing methods have been developed to identify these sequences. Even subtle alteration (or mutation) of these sequences can lead to many human syndromes and diseases. This article reviews 1) the structure of the nucleotide, 2) the methods of DNA sequencing, and 3) its recent clinical application in analysis of the nevoid basal cell carcinoma syndrome.
authors.affiliation: Department of Oral and Maxillofacial Surgery, Harvard School of Dental Medicine and Massachusetts General Hospital, Boston, MA 02115, USA.
authors.forename: Yong
authors.initials: Y
authors.lastname: Kim
authors.forename: R Bruce
authors.initials: RB
authors.lastname: Donoff
authors.forename: David T W
authors.initials: DT
authors.lastname: Wong
authors.forename: Randy
authors.initials: R
authors.lastname: Todd
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics; D001482:Base Composition / Q000235:genetics; D020029:Base Pairing / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D004194:Disease; D006258:Head and Neck Neoplasms / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009807:Odontogenic Cysts / Q000235:genetics; D000072079:Patched Receptors; D011956:Receptors, Cell Surface; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: D003062:Codon; D008565:Membrane Proteins; D000072079:Patched Receptors; D011956:Receptors, Cell Surface; D004247:DNA