FREQUENCY OF THE IVS12+5G→A SPLICE MUTATION OF THE FUMARYLACETOACETATE HYDROLASE GENE IN CARRIERS OF HEREDITARY TYROSINAEMIA IN THE FRENCH CANADIAN POPULATION OF SAGUENAY-LAC-ST-JEAN
✍ Scribed by JACQUES POUDRIER; MARYSE ST-LOUIS; FRANCINE LETTRE; KARINE GIBSON; CLAUDE PRÉVOST; JEAN LAROCHELLE; ROBERT M. TANGUAY
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 519 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
Hereditary tyrosinaemia type I (HTI), an autosomal recessive inborn error of metabolism, is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. The highest incidence of HTI is observed in the Saguenay-Lac-St-Jean region (SLSJ) (Quebec, Canada), where 1 out of 22 individuals is thought to be a carrier. A splice mutation (IVS12+ 5G+A) has recently been identified in this particular region. Here, we have determined the frequency of this mutation in a population of obligate carriers from the SLSJ region by allele-specific oligonucleotide hybridization and a method using a restriction enzyme digestion. Over 95 per cent of the HTI carriers were found to have the IVS12+5G+A splice mutation. Screening for this mutation based on the two methods reported here is thus a reliable and rapid way of detecting carriers of hereditary tyrosinaemia type 1 in that region at high risk.