Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily

Acta Paediatr Suppl. 1994 Dec:407:39-40. doi: 10.1111/j.1651-2227.1994.tb13446.x.

Abstract

In this study we report previously undescribed associations between mutations, haplotypes and a minisatellite polymorphism (Hind III VNTR) of the PAH gene in the Sicilian population. Analysis of the association between mutations and linked polymorphisms between Sicilians and other Mediterranean populations may be a useful tool to study the time-space origin of mutant PAH genes in Southern Europe.

MeSH terms

  • Alleles
  • Deoxyribonuclease HindIII / genetics*
  • Haplotypes*
  • Humans
  • Minisatellite Repeats / genetics*
  • Mutation / genetics*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / enzymology
  • Phenylketonurias / epidemiology*
  • Phenylketonurias / genetics*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic / genetics
  • Sicily / epidemiology
  • Space-Time Clustering

Substances

  • Phenylalanine Hydroxylase
  • Deoxyribonuclease HindIII