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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
Author(s) -
POUDRIER JACQUES,
STLOUIS MARYSE,
LETTRE FRANCINE,
GIBSON KARINE,
PRÉVOST CLAUDE,
LAROCHELLE JEAN,
TANGUAY ROBERT M.
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199601)16:1<59::aid-pd810>3.0.co;2-d
Subject(s) - genetics , mutation , population , splice , biology , splice site mutation , gene , medicine , exon , alternative splicing , environmental health
Abstract 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) (Québec, Canada), where 1 out of 22 individuals is thought to be a carrier. A splice mutation (IVS12+5G|adA) 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|adA 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 I in that region at high risk.