title: Prenatal diagnosis of glucose-6-phosphate-dehydrogenase deficiency.
abstract: Prior to the development of the DNA-based technology reliable prenatal diagnosis of G6PD deficiency was not possible. We show that, using PCR amplification and restriction endonuclease digestion, prenatal diagnosis is possible. We have now been able to determine that the male fetus of a mother heterozygous for G6PD Mediterranean had inherited the maternal X chromosome with the normal G6PD gene.
authors.affiliation: Department of Molecular and Experimental Medicine Scripps Clinic and Research Foundation, La Jolla, CA 92037.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: W
authors.initials: W
authors.lastname: Kuhl
authors.forename: M
authors.initials: M
authors.lastname: Fox
authors.forename: K
authors.initials: K
authors.lastname: Tabsh
authors.forename: B F
authors.initials: BF
authors.lastname: Crandall
mesh_terms: D000328:Adult; D004262:DNA Restriction Enzymes; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014960:X Chromosome
chemical_list: D005954:Glucosephosphate Dehydrogenase; D004262:DNA Restriction Enzymes