ABCD1 p.Gln672*
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[hide] Characterization of a novel mutation in exon 10 of... Clin Genet. 1998 Jun;53(6):482-7. Holzinger A, Maier E, Stockler-Ipsiroglu S, Braun A, Roscher AA
Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.
Clin Genet. 1998 Jun;53(6):482-7., [PMID:9712540]
Abstract [show]
We have detected a novel mutation in the adrenoleukodystrophy (ALD) gene in skin fibroblasts in primary culture derived from a patient suffering from the adrenocortical insufficiency-only-phenotype of ALD. This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10. It leads to a translation product lacking the 74 C-terminal amino acids. As a consequence of the loss of this region, which immediately follows the putative nucleotide binding domain, the ALD protein (ALDP) was not detectable at all by ALDP-specific monoclonal antibodies. Since ALDP-specific mRNA was readily detected in these fibroblasts, the loss of protein is probably not attributable to RNA instability but may be explained by protein instability. If the Q672X mutation leads in fact to an unstable translation product this would be consistent with the hypothesis that the C-terminus is crucial for ALDP stability.
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3 This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10.
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ABCD1 p.Gln672* 9712540:3:31
status: NEW7 If the Q672X mutation leads in fact to an unstable translation product this would be consistent with the hypothesis that the C-terminus is crucial for ALDP stability.
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ABCD1 p.Gln672* 9712540:7:7
status: NEW71 Discussion We have found a novel nonsense mutation (C2400T/Q672X) in exon 10 of the adrenoleukodystrophy gene that would result in a truncated protein lacking 72 amino acids at the C-terminus.
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ABCD1 p.Gln672* 9712540:71:59
status: NEW[hide] Simultaneous quantitative and allele-specific expr... BMC Genet. 2004 May 5;5:8. Ding C, Maier E, Roscher AA, Braun A, Cantor CR
Simultaneous quantitative and allele-specific expression analysis with real competitive PCR.
BMC Genet. 2004 May 5;5:8., [PMID:15128429]
Abstract [show]
BACKGROUND: For a diploid organism such as human, the two alleles of a particular gene can be expressed at different levels due to X chromosome inactivation, gene imprinting, different local promoter activity, or mRNA stability. Recently, imbalanced allelic expression was found to be common in human and can follow Mendelian inheritance. Here we present a method that employs real competitive PCR for allele-specific expression analysis. RESULTS: A transcribed mutation such as a single nucleotide polymorphism (SNP) is used as the marker for allele-specific expression analysis. A synthetic mutation created in the competitor is close to a natural mutation site in the cDNA sequence. PCR is used to amplify the two cDNA sequences from the two alleles and the competitor. A base extension reaction with a mixture of ddNTPs/dNTP is used to generate three oligonucleotides for the two cDNAs and the competitor. The three products are identified and their ratios are calculated based on their peak areas in the MALDI-TOF mass spectrum. Several examples are given to illustrate how allele-specific gene expression can be applied in different biological studies. CONCLUSIONS: This technique can quantify the absolute expression level of each individual allele of a gene with high precision and throughput.
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132 The ddNTPs/dNTP mixtures are: ddATP/ddCTP/ddGTP/dTTP for interleukin 6 and ABCD1 Q672X, ddTTP/ddCTP/ddGTP/dATP for lexA, and ddATP/ddCTP/ddTTP/dGTP for ABCD-1 S108W and S213C.
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ABCD1 p.Gln672* 15128429:132:81
status: NEW