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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。

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe.

作者信息

Boué J, Oberle I, Heilig R, Mandel J L, Moser A, Moser H, Larsen J W, Dumez Y, Boué A

出版信息

Hum Genet. 1985;69(3):272-4. doi: 10.1007/BF00293039.

DOI:10.1007/BF00293039
PMID:3856557
Abstract

A first trimester prenatal diagnosis of adrenoleukodystrophy has been done on chorionic villi biopsy in the pregnancy of a carrier woman. Two different approaches allowed one to determine that the male fetus was affected: the linkage analysis of DNA from chorionic villi using the highly polymorphic probe St 14 and the determination of very long chain fatty acid levels in cultured chorionic villi.

摘要

在一名携带者女性的孕期，通过绒毛取样对肾上腺脑白质营养不良进行了孕早期产前诊断。两种不同的方法确定了男性胎儿患病：使用高度多态性探针St 14对绒毛DNA进行连锁分析，以及测定培养的绒毛中极长链脂肪酸水平。

相似文献

1
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.
2
A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids.
Prenat Diagn. 1995 May;15(5):486-90. doi: 10.1002/pd.1970150514.
3
[Spastic paraparesis and adrenal gland insufficiency: adrenomyeloneuropathy].[痉挛性截瘫与肾上腺功能不全：肾上腺脊髓神经病]
Ned Tijdschr Geneeskd. 1987 Jan 31;131(5):208-11.
4
Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts.
Clin Genet. 1982 Jul;22(1):25-9. doi: 10.1111/j.1399-0004.1982.tb01406.x.
5
Adrenoleukodystrophy: biochemical procedures in diagnosis, prevention and treatment.
J Inherit Metab Dis. 1987;10 Suppl 1:46-53. doi: 10.1007/BF01812846.
6
[Familial adrenoleukodystrophy].[家族性肾上腺脑白质营养不良]
J Genet Hum. 1985 Dec;33(5):427-34.
7
Adrenoleukodystrophy: from bedside to molecular biology.
J Child Neurol. 1987 Apr;2(2):140-50. doi: 10.1177/088307388700200211.
8
Pitfalls in the prenatal diagnosis of peroxisomal beta-oxidation defects by chorionic villus sampling.绒毛取样进行过氧化物酶体β氧化缺陷产前诊断的陷阱
Prenat Diagn. 1994 Sep;14(9):813-9. doi: 10.1002/pd.1970140909.
9
[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.
10
Adrenoleukodystrophy.
Can J Neurol Sci. 1982 Nov;9(4):449-52. doi: 10.1017/s0317167100044383.

引用本文的文献

1
Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.肾上腺脊髓神经病作为原发性肾上腺皮质功能不全和痉挛性截瘫的病因
CMAJ. 2004 Oct 26;171(9):1073-7. doi: 10.1503/cmaj.1032006.
2
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.X连锁肾上腺脑白质营养不良：临床表现、诊断与治疗
J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):4-14. doi: 10.1136/jnnp.63.1.4.
3
DNA diagnosis of X-linked adrenoleukodystrophy.X连锁肾上腺脑白质营养不良的DNA诊断

本文引用的文献

1
Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts.肾上腺脑白质营养不良：培养的皮肤成纤维细胞中C26脂肪酸升高。
Ann Neurol. 1980 Jun;7(6):542-9. doi: 10.1002/ana.410070607.
2
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.肾上腺脑白质营养不良：血浆中饱和极长链脂肪酸含量增加。
Neurology. 1981 Oct;31(10):1241-9. doi: 10.1212/wnl.31.10.1241.
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The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland.
J Inherit Metab Dis. 1995;18 Suppl 1:34-44. doi: 10.1007/BF00711427.
4
Clinical approach to inherited peroxisomal disorders.遗传性过氧化物酶体疾病的临床诊疗方法
J Inherit Metab Dis. 1995;18 Suppl 1:1-18. doi: 10.1007/BF00711425.
5
Peroxisomal disorders: a newly recognised group of genetic diseases.过氧化物酶体病：一组新发现的遗传性疾病。
Eur J Pediatr. 1986 Feb;144(5):430-40. doi: 10.1007/BF00441734.
6
Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia.致断裂剂诱导的染色体断裂作为范可尼贫血孕早期产前诊断的标志物。
Hum Genet. 1986 May;73(1):86-8. doi: 10.1007/BF00292671.
7
Diagnosis of genetic disease using recombinant DNA.使用重组DNA诊断遗传疾病。
Hum Genet. 1986 May;73(1):1-11. doi: 10.1007/BF00292654.
8
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.一组用于人类X染色体区域定位的X连锁序列及一组体细胞杂种的特征分析。
Hum Genet. 1986 Jan;72(1):43-9. doi: 10.1007/BF00278816.
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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.
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Localisation of the gene for Hunter syndrome on the long arm of X chromosome.
Hum Genet. 1986 Dec;74(4):391-8. doi: 10.1007/BF00280492.
肾上腺脑白质营养不良的产前诊断。培养的羊膜细胞和胎儿肾上腺中二十六烷酸水平升高的证明。
Pediatr Res. 1982 Mar;16(3):172-5. doi: 10.1203/00006450-198203000-00002.
4
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.
5
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.
6
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.
7
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.脑肝肾（泽韦格）综合征。极长链脂肪酸水平升高及降解受损及其在产前诊断中的应用。
N Engl J Med. 1984 May 3;310(18):1141-6. doi: 10.1056/NEJM198405033101802.
8
Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.二十四烷酸在过氧化物酶体中被氧化：对泽尔韦格脑肝肾综合征和肾上腺脑白质营养不良的影响。
Proc Natl Acad Sci U S A. 1984 Jul;81(13):4203-7. doi: 10.1073/pnas.81.13.4203.
9
A cytological map of the human X chromosome--evidence for non-random recombination.人类X染色体的细胞学图谱——非随机重组的证据。
Nucleic Acids Res. 1984 Jul 11;12(13):5277-85. doi: 10.1093/nar/12.13.5277.
10
Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection, and differential mutation rate in the two sexes.关于撒丁岛甲型血友病的研究，涉及复等位基因、携带者检测以及两性间差异突变率等问题。
Am J Hum Genet. 1984 Jan;36(1):44-71.