Summary
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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Drayna D, Davies K, Hartley D, Mandel JL, Camerino G, Williamson R, White R (1984) Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci USA 81:2836–2839
Filippi G, Mannucci PM, Coppola R, Farris A, Rinaldi A, Siniscalco M (1984) 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 36:44–71
Goossens M, Dumez Y, Kaplan L, Lupker M, Chabret C, Henrion R, Rosa J (1983) Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. N Engl J Med 309:831–833
Grunebaum L, Cazenave JP, Camerino G, Kloepfer C, Mandel JL, Tolstocher P, Jaye M, de la Salle H, Lecocq JP (1984) Carrier detection of hemophilia B by using a restriction site polymorphism associated with the coagulation factor IX gene. J Clin Invest 73: 1491–1495
Harper K, Winter RM, Pembrey ME, Hartley D, Davies KE, Tuddenham EGD (1984) A clinically useful DNA probe closely linked to hemophilia A. Lancet II:6–8
Hartley DA, Davies DA, Drayna D, White RL, Williamson R (1984) A cytological map of the human X chromosome-evidence for nonrandom recombination. Nucleic Acids Res 12:5277–5285
Kan YW, Dozy AM (1978) Polymorphism of DNA sequence adjacent to human β-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci USA 75:5631–5635
Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA (1981) Adrenoleukodystrophy: evidence for X linkage, inactivation and selection favorizing the mutant allele in heterozygous cells. Proc Natl Acad Sci USA 78:5066–5070
Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumburg H, Kishimoto Y (1980) Adrenoleukodystrophy; elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol 7:542–549
Moser HW, Moser AB, Frayer KK, Chen WW, Schulman JD, O'Neill BP, Kishimoto Y (1981) Adrenoleukodystrophy; increased plasma content of satured very long chain fatty acids. Neurology 31:1241–1249
Moser HW, Moser AB, Powers JM, Nitowsky HM, Schaumburg HH, Norum RA, Migeon BR (1982) The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid in cultured amniocytes and fetal adrenal gland. Pediatr Res 16:172–175
Moser HW, Moser AB, Trojak JE, Supplee SW (1983) Identification of female carriers of adrenoleukodystrophy. J Pediatr 103:54–59
Moser AB, Singh I, Brown FR III, Solish GI, Kelly RI, Benke PJ, Moser HW (1984) The cerebro-hepato-renal (Zellweger) syndrome: increased levels and impaired degradation of very long chain fatty acids, and prenatal diagnosis. N Engl J Med 310:1141–1146
Oberle I, Drayna D, Camerino G, White R, Mandel JL (1985) The telomere of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci USA (in press)
Singh I, Moser AB, Moser HW, Kishimoto Y (1984a) Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts and amniocytes. Pediatr Res 18:286–290
Singh I, Moser AB, Goldfischer S, Moser HW (1984b) Lignoceric acid is oxidized in the peroxisomes: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukdystrophy. Proc Natl Acad Sci USA 81:4203–4207
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Boué, J., Oberle, I., Heilig, R. et al. First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe. Hum Genet 69, 272–274 (1985). https://doi.org/10.1007/BF00293039
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00293039