November 26, 2021Open Access

Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy

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Abstract

PCR primers that do not amplify the pseudogenes must be used for PCR-sequencing. MLPA combined with long-range PCR can detect large deletions and insertions, which are usually undetectable by PCR-sequencing. Prenatal diagnosis could help to prevent the birth of infants with X-ALD.

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Liu et al. (Fri,) studied this question.

synapsesocial.com/papers/69eee07cb65c86b636038016 https://doi.org/https://doi.org/10.1002/mgg3.1844

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1Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy1997 · 486 citations
2Qualitative alteration in substrate specificity of mitochondrial monoamine oxidase in brain1976 · 445 citations
3Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.1981 · 291 citations
4Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders2020 · 63 citations
5Disease progression in women with X-linked adrenoleukodystrophy is slow2019 · 93 citations

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