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PMID: 3856557 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Human genetics ·Vol. 69 ·No. 3 ·1985-00-00 ·Pages 272-4

Boué J, Oberle I, Heilig R, Mandel JL, Moser A, Moser H, Larsen JW, Dumez Y, Boué A

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.

MeSH Terms
Adrenoleukodystrophy/diagnosis,genetics Cells, Cultured Chorionic Villi/analysis Chromosome Mapping DNA/genetics Diffuse Cerebral Sclerosis of Schilder/diagnosis Fatty Acids/analysis Female Genetic Linkage Genetic Markers Humans Male Pedigree Pregnancy Pregnancy Trimester, First Prenatal Diagnosis X Chromosome
Chemicals
Fatty Acids Genetic Markers DNA hexacosanoic acid
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Boué J
Oberle I
Heilig R
Mandel J L
Moser A
Moser H
Larsen J W
Dumez Y
Boué A
References (16)
16 references, click to expand
  1. Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes.
    Pediatr Res. 1984 Mar;18(3):286-90 PMID: 6728562
  2. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.
    Proc Natl Acad Sci U S A. 1984 Jul;81(13):4203-7 PMID: 6588384
  3. Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection, and differential mutation rate in the two sexes.
    Am J Hum Genet. 1984 Jan;36(1):44-71 PMID: 6421151
  4. Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.
    Proc Natl Acad Sci U S A. 1984 May;81(9):2836-9 PMID: 6326147
  5. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
    Neurology. 1981 Oct;31(10):1241-9 PMID: 7202134
  6. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.
    Proc Natl Acad Sci U S A. 1981 Aug;78(8):5066-70 PMID: 6795626
  7. A clinically useful DNA probe closely linked to haemophilia A.
    Lancet. 1984 Jul 7;2(8393):6-8 PMID: 6145983
  8. Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.
    N Engl J Med. 1983 Oct 6;309(14):831-3 PMID: 6310398
  9. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts.
    Ann Neurol. 1980 Jun;7(6):542-9 PMID: 7436359
  10. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.
    Proc Natl Acad Sci U S A. 1985 May;82(9):2824-8 PMID: 2986139
  11. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.
    Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631-5 PMID: 281713
  12. Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene.
    J Clin Invest. 1984 May;73(5):1491-5 PMID: 6325506
  13. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.
    N Engl J Med. 1984 May 3;310(18):1141-6 PMID: 6709009
  14. Identification of female carriers of adrenoleukodystrophy.
    J Pediatr. 1983 Jul;103(1):54-9 PMID: 6864396
  15. A cytological map of the human X chromosome--evidence for non-random recombination.
    Nucleic Acids Res. 1984 Jul 11;12(13):5277-85 PMID: 6547776
  16. The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland.
    Pediatr Res. 1982 Mar;16(3):172-5 PMID: 7063272
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00293039
Published
1985-00-00
Pages
272-4
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Grants
NICHD NIH HHS · HD 10981 · United States
External Links
PubMed source DOI: 10.1007/BF00293039 View journal details
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