Mathieu M, Aubourg P, Guidoux S, Epelbaum S, Benhamou P, Berquin P, Boudailliez B, Piussan C
Service de Pédiatrie I, Centre Hospitalier Régional, CHU Nord, Amiens.
Ann Pediatr (Paris). 1990 Mar;37(3):157-61.
Juvenile adrenoleukodystrophy (ADL) is a peroxisomal, X-linked, consistently fatal condition for which no treatment is currently available. Detection of heterozygote females and antenatal diagnosis by determination of very long chain fatty acid levels are therefore mandatory. We report the case of a family with two affected first cousins but six unaffected maternal uncles. Plasma levels confirmed the usual X-linked pattern with transmission by the grandmother and ruled out the hypothesis of delayed adrenomyeloleukodystrophy in the grandfather with heterozygosis of all the daughters. Although all six sons are unaffected, two certainly heterozygote females have normal plasma very long chain fatty acid levels. Heterozygosis in these women was confirmed by family restriction fragment length polymorphism studies (TAQ1) using the St 14 probe whose reliability for the diagnosis of heterozygotes with normal plasma very long chain fatty acid levels has previously been documented.
青少年肾上腺脑白质营养不良（ADL）是一种过氧化物酶体病，呈X连锁遗传，病情持续发展且致命，目前尚无有效治疗方法。因此，通过测定极长链脂肪酸水平来检测杂合子女性并进行产前诊断是必不可少的。我们报告了这样一个家族病例，该家族中有两个患病的第一代堂兄弟，但有六个未患病的舅舅。血浆水平证实了常见的X连锁遗传模式，即由祖母遗传，排除了祖父患迟发性肾上腺脊髓神经病且所有女儿均为杂合子的假设。尽管所有六个儿子均未患病，但两名确定为杂合子的女性血浆极长链脂肪酸水平正常。通过使用St 14探针进行家族限制性片段长度多态性研究（TAQ1），证实了这些女性的杂合性，此前已有文献证明该探针对于诊断血浆极长链脂肪酸水平正常的杂合子具有可靠性。
