Summary
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.
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Matsumoto, T., Kondoh, T., Masuzaki, H. et al. A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy. Jap J Human Genet 39, 345–351 (1994). https://doi.org/10.1007/BF01874053
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DOI: https://doi.org/10.1007/BF01874053
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