Mapping of a restriction fragment length polymorphism within the human aldolase B gene

Giovanni Paolella, Rita Santamaria, Pasqualina Buono, Francesco Salvatore

Research output: Contribution to journalArticlepeer-review

Abstract

Peripheral blood DNA was hybridized to the full-length cDNA and the cloned structural gene of human aldolase B. With PvuII endonuclease a restriction fragment length polymorphism was detected that was present in the heterozygous state in about 21% of the individuals tested. A map of the human aldolase gene was constructed for the two groups of individuals found to produce different fragments after PvuII digestion. This allowed the localization of the polymorphic site within the gene, which was found to be due to the loss of a PvuII site in the last intron upstream from the 3′ end. This polymorphism may be used as a genetic marker to study individuals affected by hereditary fructose intolerance.

Original languageEnglish
Pages (from-to)115-117
Number of pages3
JournalHuman Genetics
Volume77
Issue number2
DOIs
Publication statusPublished - Oct 1987

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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