Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1

Genomic DNA from probands of various Waardenburg syndrome (WS) families were PCR-amplified using primers flanking the 8 exons of PAX3. The PCR fragments were screened for sequence variants, and subsequently cycle sequenced. Mutations were detected in exon 6 for 3 probands of WS type 1 families. Thes...

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Bibliographic Details
Published inHuman heredity Vol. 47; no. 1; p. 38
Main Authors Morell, R, Carey, M L, Lalwani, A K, Friedman, T B, Asher, Jr, J H
Format Journal Article
LanguageEnglish
Published Switzerland 01.01.1997
Subjects
Exons - genetics
Female
Frameshift Mutation - genetics
Genes, Homeobox - genetics
Humans
Male
Pedigree
Waardenburg Syndrome - genetics
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Summary:Genomic DNA from probands of various Waardenburg syndrome (WS) families were PCR-amplified using primers flanking the 8 exons of PAX3. The PCR fragments were screened for sequence variants, and subsequently cycle sequenced. Mutations were detected in exon 6 for 3 probands of WS type 1 families. These mutations all occur in the paired homeodomain DNA-binding motif.
ISSN:0001-5652
DOI:10.1159/000154387