Prenatal diagnosis of adrenoleukodystrophy by means of mutation analysis

Prenatal Diagnosis

Volumn 16, Issue 3, 1996, Pages 259-261

  Imamura, Atsushi ^a   Suzuki, Yasuyuki ^a   Song, Xiang Qian ^a   Fukao, Toshiyuki ^a   Shimozawa, Nobuyuki ^a   Orii, Tadao ^a,b   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b Chubu Women's College   (Japan)

Author keywords

adrenoleukodystrophy; gene analysis; prenatal diagnosis

Indexed keywords

ADRENOLEUKODYSTROPHY; ARTICLE; CASE REPORT; FETUS; GENETIC ANALYSIS; HUMAN; MUTATION; PEDIGREE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADRENOLEUKODYSTROPHY; CELLS, CULTURED; CHORIONIC VILLI SAMPLING; COENZYME A LIGASES; DNA, COMPLEMENTARY; FEMALE; HETEROZYGOTE; HUMANS; MALE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; RNA, MESSENGER; SEX DETERMINATION (ANALYSIS);

EID: 0029965791     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199603)16:3<259::AID-PD840>3.0.CO;2-E     Document Type: Article

References (12)

1. Fanen, P., Guidoux, S., Sarde, C.O., Mandel, J.L., Goossens, M., Aubourg, P. (1994). Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene, J. Clin. Invest , 94, 516-520.
2. Hashmi, M., Stanley, W., Singh, I. (1986). Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta oxidation system in X-linked childhood adrenoleukodystrophy, FEBS Lett., 196, 247-250.
3. Igarashi, M., Schaumburg, H.H., Powers, J., Kishimoto, Y., Kolodny, E., Suzuki, K. (1976). Fatty acid abnormality in adrenoleukodystrophy, J. Neurochem., 26, 851-860.
4. Kamijo, K., Taketani, S., Yokota, S., Osumi, T., Hashimoto, T. (1990). The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein super-family, J. Biol. Chem., 265, 4534-4540.
5. Ligtenberg, M.J.L., Kemp, S., Sarde, C.O., van Geel, B.M., Kleijer, W.J., Barth, P.G., Mandel, J.L., van Oost, B.A., Bolhuis, P.A. (1995). Spectrum of mutation in the gene encoding the adrenoleukodystrophy protein, Am. J. Hum. Genet., 56, 44-50.
6. Moser, H.W., Moser, A.B., Powers, J.M., Nitowsky, H.M., Schamburg, H.H., Norum, R.A., Migeon, B.R. (1982). The prenatal diagnosis of adrenoleukodystrophy: demonstration of increased hexacosanoic acid in cultured amniocytes and fetal adrenal gland, Pediatr. Res., 16, 172-175.
7. Mosser, J., Douar, A.M., Sarde, C.O., Kioshis, P., Feil, R., Moser, H., Poustra, A.M., Mandel, J.L., Aubourg, P. (1993). Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters, Nature, 361, 726-730.
8. Suzuki, Y., Shimozawa, N., Yajima, S., Yamaguchi, S., Orii, T., Hashimoto, T. (1991). Effect of sodium 2-5[(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal disease, Biochem. Pharmacol., 41, 453-456.
9. Suzuki, Y., Shimozawa, N., Kawabata, I., Yajima, S., Inoue, K., Uchida, Y., Izai, K., Tomatsu, S., Kondo, N., Orii, T. (1994). Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes, Brain Dev (Tokyo), 16, 27-31.
10. Uchiyama, A., Suzuki, Y., Song, X-Q., Fukao, T., Imamura, A., Tomatsu, S., Shimozawa, N., Kondo, N., Orii, T. (1994). Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy, Biochem. Biophys. Res Commun., 198, 632-636.
11. Wanders, R.J.A., van Wijland, M.J.A., van Roermund, C.W.T., Schutgens, R.B.H., van den Bosch, H., Tager, J.M., Nijenhuis, A., Tromp, A. (1987). Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders, Clin. Chim. Acta, 165, 303-310.
12. Witt, M., Erickson, R.P. (1989). A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction, Hum. Genet., 82, 271-274.