ISSN:
1435-232X
Keywords:
X-linked adrenoleukodystrophy
;
prenatal diagnosis
;
point mutation
;
ATP-binding site
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01874053
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