title: Prenatal diagnosis of adrenoleukodystrophy by means of mutation analysis.
abstract: Prenatal diagnosis of adrenoleukodystrophy (ALD) was performed by means of genetic and biochemical analysis using chorionic villi and amniocytes. The mother was a carrier of an exonic point mutation in the ALD protein gene (2154 C to T) which resulted in the premature formation of a termination codon (Q590STOP) and deletes the Pst I site. Two patients in this family were hemizygotes for this mutation. Pst I digestion of cDNA from chorionic villi revealed that the fetus was a heterozygote for this mutation, and sex determination using the polymerase chain reaction (PCR) indicated female. Lignocerate oxidation in cultured amniocytes was slightly decreased. These findings suggest that the fetus is a female carrier of ALD, and the resultant baby was female.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Imamura
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: X Q
authors.initials: XQ
authors.lastname: Song
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D002478:Cells, Cultured; D015193:Chorionic Villi Sampling; D003066:Coenzyme A Ligases / Q000378:metabolism; D018076:DNA, Complementary / Q000032:analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012333:RNA, Messenger / Q000032:analysis; D012732:Sex Determination Analysis
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger; D003066:Coenzyme A Ligases; C044125:lignoceroyl-CoA ligase