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.
Department of Pediatrics, Nagasaki University School of Medicine, Japan.
T
T
Matsumoto
T
T
Kondoh
H
H
Masuzaki
N
N
Harada
T
T
Matsusaka
E
E
Kinoshita
G
G
Takeo
M
M
Tsujihata
Y
Y
Suzuki
Y
Y
Tsuji
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