Analysis of the relationship between the level of very long chain fatty acid and ABCD1 gene mutation in X-linked adrenaldystrophy patients

• DOI: 10.3760/cma.j.issn.1673-4386.2018.02.006
• Publication Date: 2018-04-15
• Authors: Yanna Cai; Minyan Jiang; Minzhi Peng; Huiying Sheng; Yunting Lin; Cuili Liang; Xiuzhen Li; Jing Chen; Zhihong Zhou
• Keywords: Adrenoleukodystrophy; Nonsense mutation; Nonsense

Objective Analysis of the level very long chain fatty acids in plasma X-linked adrenoleukodystrophy and discussion its relation with mutation gene.

Methods 28 ALD hemizygotes 9 heterozygotes collected from May 2013 to March 2017 were enrolled this study. Concentrations VLCFAs quantitatively analyzed ABCD1 gene sequenced.

Results ①The concentration 26: 0, C24: 0/C22: C26: 0 significantly different among hemizygotes, control groups (P=0.000, respectively). concentrations had tendency positive correlation three groups; ②37 patients identified mutations gene; ③According genotypes compared base substitution group, levels deletion-insertion group higher(P=0.008). According amino acid change type splicing-frameshift higher than missense nonsense (P=0.038).

Conclusion Abnormal elevations including important for diagnosis adrenoleukodystrophy. The can be used predicting genetic mutations.

Key words: Verylong-chain (VLCFA); Gas chromatograph-massspectrometry (GC-MS); X-linked adrenoleukodystrophy; ABCD1