title: DNA mutation analysis in heterotaxy.
abstract: Heterotaxy refers to the abnormal arrangement of internal organs in relation to each other. It is characterized by complex cardiac malformations that are thought to result from abnormal left-right patterning in early embryonic development. Mutations in four genes have been identified in human heterotaxy. ZIC3, a zinc finger transcription factor, causes X-linked heterotaxy. EGF-CFC, ACVR2B, and LEFTYA are all members of a transforming growth factor-beta signal transduction pathway that is critical for proper left-right development. Point mutations have been identified in each of these genes using polymerase chain reaction-based mutation analysis strategies. ZIC3 mutation screening will be used to illustrate the methods for molecular sequence data acquisition and examination. These techniques are applicable to any gene of interest and will be useful for further evaluation of candidate genes for heterotaxy.
authors.affiliation: Division of Molecular Cardiovascular Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, OH, USA.
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Ware
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons / Q000235:genetics; D005260:Female; D015894:Genome, Human / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009841:Oligonucleotides; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; D009841:Oligonucleotides; D014157:Transcription Factors; C491595:ZIC3 protein, human; D004247:DNA