Premium
New haplotype for the Glu104Asp mutation in triose‐phosphate isomerase deficiency and prenatal diagnosis in a Spanish family
Author(s) -
Repiso A.,
Corrons J. L. Vives,
Vulliamy T.,
Killeen N.,
Layton M.,
Carreras J.,
Climent F.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0098-6
Subject(s) - triosephosphate isomerase , haplotype , human genetics , genetics , mutation , prenatal diagnosis , medicine , metabolic disease , biology , pregnancy , endocrinology , allele , gene , fetus
Summary First‐trimester prenatal diagnosis was undertaken by chorionic villus DNA analysis in a Spanish family with the inherited Glu104Asp triose‐phosphate isomerase deficiency. The fetus was heterozygous for the mutation and therefore predicted to be clinically unaffected. To investigate the evolutionary origin of this mutation, studies were conducted on the intragenic 2262A/G polymorphism and the CD4 pentameric tandem repeat marker. A different haplotype was found to the one previously described, suggesting a different origin of the Spanish mutation.