A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy.
A prenatal diagnosis was performed in a family with X-linked adrenoleukodystrophy (ALD). A fetus was at high risk of suffering the disease by segregation analysis and by very long chain fatty acid-CoA synthetase activity assay. A transition (G to A) at codon 617 of the candidate ALD gene was detected by reverse transcription PCR (RT-PCR) based sequencing of the fetal liver RNA. The mutation was located in highly conserved ATP-binding site in this gene and deduced amino acid transversion R617H was thought to be the cause of ALD in this family.
Matsumoto
T
T
Department of Pediatrics, Nagasaki University School of Medicine, Japan.
Kondoh
T
T
Masuzaki
H
H
Harada
N
N
Matsusaka
T
T
Kinoshita
E
E
Takeo
G
G
Tsujihata
M
M
Suzuki
Y
Y
Tsuji
Y
Y
D000255:Adenosine Triphosphate / Q000378:metabolism*; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome / Q000235:genetics* / Q000378:metabolism
D000255:Adenosine Triphosphate