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Scientific article
English

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

Published inHuman genetics, vol. 102, no. 4, p. 387-392
Publication date1998
Abstract

The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF

Keywords
  • Abnormalities, Multiple/ genetics
  • Base Sequence
  • Chromosomes, Human, Pair 7
  • Cloning, Molecular
  • Exons
  • Hedgehog Proteins
  • Humans
  • Molecular Sequence Data
  • Polydactyly/ genetics
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Promoter Regions, Genetic
  • Proteins/ analysis/ genetics
  • Sacrococcygeal Region/ abnormalities
  • Sequence Analysis, DNA
  • Thumb/ abnormalities
  • Trans-Activators
Citation (ISO format)
VARGAS, F. R. et al. Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. In: Human genetics, 1998, vol. 102, n° 4, p. 387–392. doi: 10.1007/s004390050709
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ISSN of the journal0340-6717
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