DNA mutation analysis in heterotaxy.

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)247-256
Number of pages10
JournalMethods in molecular medicine
Volume126
StatePublished - 2006
Externally publishedYes

Fingerprint

Mutation
DNA
Genes
Molecular Sequence Data
Zinc Fingers
Point Mutation
Epidermal Growth Factor
Transforming Growth Factor beta
Embryonic Development
Signal Transduction
Transcription Factors
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Medicine(all)

Cite this

DNA mutation analysis in heterotaxy. / Ware, Stephanie.

In: Methods in molecular medicine, Vol. 126, 2006, p. 247-256.

Research output: Contribution to journalArticle

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