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- W2358665448 abstract "Objective:To detect the mutations of ABCD1 gene by denaturing high performance liquid chromatography (DHPLC).Method:DHPLC was used to examine the ABCD1 gene in four Chinese families with X-liked adrenoleukodystrophy (X-ALD).The suspectable mutations were comfirmed by DNA sequencing.Results:In the abnormal DHPLC profiles,double peaks were found in PCR products of all patients' mothers,the mixed PCR products of corresponding normal controls and patient 2,3,brother or cousin of patient 4,which indicated the presence of sequence alterations in ABCD1 gene.All the alterations were confirmed by sequencing,which revealed four distinct mutations in ABCD1 genes of the four pedigrees.Thus,a mutation of fs- Glu471 was found in one ABCD1 allele of the mother of patient 1.The mutations of S108X and R617C were identified in ABCD1 gene from patient2 and patient3,respectively.While a mutation of A141T was detected in ABCD1 gene from the brother and cousin of patient 4.Conclusion:The DHPLC protocol could act as an efficient assay for mutation detecting of X-ALD families, and its application would be beneficial to further mutation screening and prenatal diagnosis." @default.
- W2358665448 created "2016-06-24" @default.
- W2358665448 creator A5058359500 @default.
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- W2358665448 date "2008-01-01" @default.
- W2358665448 modified "2023-09-23" @default.
- W2358665448 title "MUTATION DETECTION OF ABCD1 GENE IN THE MOLECULAR DIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY BY DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY" @default.
- W2358665448 hasPublicationYear "2008" @default.
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