Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy
Open accessAbstract
X-linked adrenoleukodystrophy is a serious and often fatal disorder, affecting the white matter of the nervous system, the adrenal cortex, and the testis. The gene mutated in X-ALD encodes a peroxisomal membrane protein, ALDP. The presence of very long chain fatty acids in plasma is highly diagnostic for affected males and carrier females, but exclusion of carrier status biochemically is unreliable. Molecular analysis of the X-ALD gene has the potential to either identify or rule out carrier status accurately, but is complicated by the existence of autosomal paralogs. We have developed and validated a robust DNA diagnostic test for this disorder involving nonnested genomic amplification of the X-ALD gene, followed by fluorescent dye-primer sequencing and analysis. This protocol provides a highly reliable means of determining carrier status in women at risk for transmitting X-ALD and is applicable to a clinical diagnostic laboratory.
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When the Boehm genomic DNA-based strategy is used, approximately 70% of all ABCD1 mutations can be identified in four amplicons which together cover 40% of the coding region.
“When this genomic sequence strategy is used, approximately 70% of all mutations can be identified in four amplicons which together cover 40% of the coding region.”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Boehm et al., 1999
The Results and Sample Preparation and PCR Amplification sections describe a genomic DNA sequencing strategy using amplicons, with 10 amplifications covering the full coding region. Our copy does not state that four amplicons cover 40% of that region or identify approximately 70% of mutations; searches for those figures found no supporting passage. Page numbers were unavailable. (LLM, conf=0.83)
Experimental — accuracy not yet measuredMutation analysis is the most reliable method for the identification of heterozygotes for X-ALD, provided that the mutation in the family has been defined in an affected male or obligate heterozygote relative.
“Mutation analysis is the most reliable method for the identification of heterozygotes, provided that the mutation in the family has been defined in an affected male or obligate heterozygote relative [Boehm et al., 1999].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Boehm et al., 1999
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References 16 · Cited by 112
Research works printed but not linked: 1
- Moser AB, Kreiter N, Bezman L, Lu S-e, Raymond GV, Naidu S, Moser HW. Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29000 controls. Ann Neurol. [in press]
- Authors
- Boehm, C. D., Cutting, G. R., Lachtermacher, M. B., Moser, H. W., & Chong, S. S.
- Affiliations
- Kennedy Krieger Institute (US)
- Corresponding author
- Chong, Samuel S.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 1999-02
- Volume
- 66
- Issue
- 2
- Pages
- 128-136
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W1987924832
- Cited by
- 112
- References
- 16
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 2 · 2022: 2 · 2021: 2 · 2020: 3 · 2019: 5 · 2018: 2 · 2017: 2 · 2016: 4 · 2015: 3 · 2014: 5 · 2013: 5 · 2012: 7
- FWCI
- 2.88
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Genetics and Metabolism (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Center for Research Resources (M01RR000722, RR00722)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-10981, P01HD010981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked adrenoleukodystrophy, carrier screening, DNA-based diagnosis, very long chain fatty acids, peroxisomal membrane proteins
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Base Sequence, Female, Genetic Testing, Genetic Carrier Screening, Humans, Male, Membrane Proteins, X Chromosome, Polymerase Chain Reaction, DNA Primers, ATP-Binding Cassette Transporters
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