Carrier detection for Sjögren-Larsson syndrome.
Carrier detection for Sjögren-Larsson syndrome.
复制标题
干燥综合征的携带者检测。
DOI：
10.1007/bf01800352
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发表时间：
1992
影响因子：
4.2
通讯作者：
Rizzo,WB
中科院分区：
文献类型：
--
作者：
Kelson,TL;Craft,DA;Rizzo,WB
Sjögren-Larsson综合征(SLS)是一种常染色体隐性遗传病，与脂肪醇：NAD+氧化还原酶复合体(FAO)活性降低有关。最近的研究表明，系统性红斑狼疮患者特别缺乏粮农组织的脂肪醛脱氢酶(FALDH)成分。为了探讨SLS携带者检测的可能性，用十八碳底物十八醇和十八醛检测了培养的正常人、SLS杂合子和SLS纯合子皮肤成纤维细胞中FAO和FALDH的活性。在11个SLS杂合子中，3个的FAO活性在正常范围内；另外8个SLS杂合子的FAO活性低于正常。相反，成纤维细胞FALDH活性在区分SLS杂合子和正常对照方面比FAO更有效。正常对照组−1(mg蛋白)−1活性为8.5 4±1.16(平均值±SD；范围6.95~10.77；n=12)，SLS杂合子为5.12±1.3 1(范围3.2 8~6.96；n=11)，为正常活性的6 0±15%。一个SLS杂合子的FALDH活性低于正常范围；该杂合子的FAO活性低于正常。SLS杂合子的FAO或FALDH活性均不在SLS纯合子的测定值范围内。这些结果表明，使用18碳底物测定培养的皮肤成纤维细胞中FAO和FALDH的活性对于SLS携带者的检测是有用的。
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder associated with reduced activity of the fatty alcohol: NAD+oxidoreductase complex (FAO). Recent studies indicate that SLS patients are specifically deficient in the fatty aldehyde dehydrogenase (FALDH) component of FAO. To investigate the possibility of carrier detection for SLS, FAO and FALDH activities were measured in cultured skin fibroblasts from normal controls, obligate SLS heterozygotes, and SLS homozygotes using the 18-carbon substrates octadecanol and octadecanal. Three of 11 heterozygotes for SLS had FAO activities that were within the normal range; the other 8 SLS heterozygotes had FAO activities below normal. In contrast, fibroblast FALDH activity was more effective than FAO in discriminating SLS heterozygotes from normal controls. FALDH activity (nmol min−1(mg protein)−1) in normal controls was 8.54 ± 1.16 (mean ± SD; range 6.95–10.77;n=12) and in SLS heterozygotes was 5.12 ± 1.31 (range 3.28–6.96;n=11), or 60 ± 15% of mean normal activity. One SLS heterozygote had an FALDH activity within the lower range of normal; this heterozygote had an FAO activity below normal. None of the SLS heterozygotes had an FAO or FALDH activity that was in the range of that measured in SLS homozygotes. These results indicate that measurement of FAO and FALDH activities in cultured skin fibroblasts using 18-carbon substrates is useful for SLS carrier detection.