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Familial adrenoleukodystrophy: long chain fatty acid levels and analysis with a factor VIII DNA probe.

作者信息

Berriche S, Turpin J C, Lucotte G

机构信息

Laboratory of Molecular Genetics, INTS, Paris, France.

出版信息

J Neurol. 1988 Mar;235(4):234-5. doi: 10.1007/BF00314353.

DOI:10.1007/BF00314353
PMID:2897431
Abstract

Segregation studies of X-linked adrenoleukodystrophy (ALD) and a cloned desoxyribonucleic fragment (factor VIII gene), which detects polymorphism in the distal end of the long arm of the X chromosome (Xq28), are reported in a large sibship ALD family. The findings should permit better identification of carriers and add a new marker for identifying the ALD gene itself.

摘要

相似文献

1
Familial adrenoleukodystrophy: long chain fatty acid levels and analysis with a factor VIII DNA probe.
J Neurol. 1988 Mar;235(4):234-5. doi: 10.1007/BF00314353.
2
Linkage of adrenoleukodystrophy to a polymorphic DNA probe.肾上腺脑白质营养不良与多态性DNA探针的连锁关系。
Ann Neurol. 1987 Apr;21(4):349-52. doi: 10.1002/ana.410210406.
3
Frequent alterations of visual pigment genes in adrenoleukodystrophy.肾上腺脑白质营养不良中视觉色素基因的频繁改变。
Am J Hum Genet. 1988 Mar;42(3):408-13.
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Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family.Xq28处的DNA标记与同一家族中出现的肾上腺脑白质营养不良和肾上腺脊髓神经病的连锁关系。
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[Adrenoleukodystrophy: significance for genetic counseling of the determination of very long-chain fatty acids and of molecular biology].[肾上腺脑白质营养不良：极长链脂肪酸测定及分子生物学在遗传咨询中的意义]
Ann Pediatr (Paris). 1990 Mar;37(3):157-61.
6
[Familial adrenoleukodystrophy].[家族性肾上腺脑白质营养不良]
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[Apropos of a familial case of adrenoleukodystrophy related to X chromosome diagnosed prenatally].[关于一例产前诊断的与X染色体相关的肾上腺脑白质营养不良家族病例]
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Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy.在一个针对肾上腺脑白质营养不良进行生化筛查的家族中，半合子之间的表型异质性。
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Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy.家族性脊髓小脑变性作为肾上腺脑白质营养不良的一种表现形式。
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引用本文的文献

1
Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible.
J Inherit Metab Dis. 1992;15(1):68-74. doi: 10.1007/BF01800346.
2
Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis.
Eur J Pediatr. 1992 Oct;151(10):761-3. doi: 10.1007/BF01959086.
3
Adult adrenoleukodystrophy: the clinical spectrum in a large Dutch family.成人肾上腺脑白质营养不良：一个荷兰大家庭中的临床谱系
J Neurol. 1992 Feb;239(2):107-11. doi: 10.1007/BF00862985.

本文引用的文献

1
Identification of female carriers of adrenoleukodystrophy.肾上腺脑白质营养不良女性携带者的鉴定
J Pediatr. 1983 Jul;103(1):54-9. doi: 10.1016/s0022-3476(83)80775-6.
2
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.肾上腺脑白质营养不良：X连锁、失活以及杂合细胞中有利于突变等位基因的选择的证据。
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5066-70. doi: 10.1073/pnas.78.8.5066.
3
Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes.
肾上腺脑白质营养不良：白细胞、培养的皮肤成纤维细胞和羊膜细胞中极长链脂肪酸氧化受损。
Pediatr Res. 1984 Mar;18(3):286-90. doi: 10.1203/00006450-198403000-00016.
4
First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe.孕早期通过测定极长链脂肪酸水平并与DNA探针进行连锁分析对肾上腺脑白质营养不良进行产前诊断。
Hum Genet. 1985;69(3):272-4. doi: 10.1007/BF00293039.
5
Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.甲型血友病。通过DNA分析检测分子缺陷及携带者。
N Engl J Med. 1985 Oct 3;313(14):842-8. doi: 10.1056/NEJM198510033131402.
6
[Adult disclosure of a case of familial adrenoleukodystrophy].
Rev Neurol (Paris). 1985;141(4):289-95.
7
Linkage of adrenoleukodystrophy to a polymorphic DNA probe.肾上腺脑白质营养不良与多态性DNA探针的连锁关系。
Ann Neurol. 1987 Apr;21(4):349-52. doi: 10.1002/ana.410210406.