New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family.
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.
Repiso
A
A
Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Universitat de Barcelona, Spain.
Corrons
J L Vives
JL
Vulliamy
T
T
Killeen
N
N
Layton
M
M
Carreras
J
J
Climent
F
F
D001224:Aspartic Acid / Q000378:metabolism*; D015704:CD4 Antigens / Q000235:genetics; D004262:DNA Restriction Enzymes / Q000378:metabolism; D019143:Evolution, Molecular; D005192:Family Health; D005260:Female; D018698:Glutamic Acid / Q000378:metabolism*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA; D013030:Spain; D014305:Triose-Phosphate Isomerase / Q000172:deficiency* / Q000235:genetics
D015704:CD4 Antigens; D001224:Aspartic Acid; D018698:Glutamic Acid; D004262:DNA Restriction Enzymes; D014305:Triose-Phosphate Isomerase