title: Carrier detection for adrenoleukodystrophy by high-performance liquid chromatography.
abstract: With a newly devised method of high-performance liquid chromatography (HPLC), we scrutinized lipid extraction of very-long-chain fatty acids of cultured skin fibroblasts from obligate (n = 4) and possible (n = 3) carriers for adrenoleukodystrophy (ALD) in order to establish the best method to detect a carrier for the ALD gene. All four methods (total esterified fatty acids, total fatty acids with acetonitrile-HCl, total fatty acids with methanolic-HCl, and triacylglycerol fraction) were applicable to carrier detection, but from the standpoint of simplicity and sensitivity, the method using total fatty acids with acetonitrile-HCl seemed to be the best. This is the first study of ALD carrier detection in which cultured skin fibroblasts are investigated using HPLC as an analytical method.
authors: Department of Neurology, National Chikugo Hospital, Fukuoka, Japan.
authors: T
authors: T
authors: Sakai
authors: Y
authors: Y
authors: Antoku
authors: K
authors: K
authors: Tsukamoto
authors: K
authors: K
authors: Imanishi
authors: H
authors: H
authors: Iwashita
authors: I
authors: I
authors: Gotoh
mesh_terms: D000326:Adrenoleukodystrophy / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005227:Fatty Acids / Q000032:analysis; D005347:Fibroblasts / Q000032:analysis; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008055:Lipids / Q000032:analysis; D012867:Skin / Q000032:analysis / Q000166:cytology
chemical_list: D005227:Fatty Acids; D008055:Lipids; C017364:hexacosanoic acid; C007547:behenic acid