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Literature DB >> 3856557

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

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

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.

Entities: Chemical Disease Gene Species

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Year: 1985 PMID： 3856557 DOI： 10.1007/bf00293039

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

16 in total

1. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.

Authors: I Oberlé; D Drayna; G Camerino; R White; J L Mandel
Journal: Proc Natl Acad Sci U S A Date: 1985-05 Impact factor: 11.205

2. Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors: D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal: Proc Natl Acad Sci U S A Date: 1984-05 Impact factor: 11.205

3. Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.

Authors: M Goossens; Y Dumez; L Kaplan; M Lupker; C Chabret; R Henrion; J Rosa
Journal: N Engl J Med Date: 1983-10-06 Impact factor: 91.245

4. Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection, and differential mutation rate in the two sexes.

Authors: G Filippi; P M Mannucci; R Coppola; A Farris; A Rinaldi; M Siniscalco
Journal: Am J Hum Genet Date: 1984-01 Impact factor: 11.025

5. Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes.

Authors: I Singh; A E Moser; H W Moser; Y Kishimoto
Journal: Pediatr Res Date: 1984-03 Impact factor: 3.756

6. A clinically useful DNA probe closely linked to haemophilia A.

Authors: K Harper; R M Winter; M E Pembrey; D Hartley; K E Davies; E G Tuddenham
Journal: Lancet Date: 1984-07-07 Impact factor: 79.321

7. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.

Authors: I Singh; A E Moser; S Goldfischer; H W Moser
Journal: Proc Natl Acad Sci U S A Date: 1984-07 Impact factor: 11.205

8. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.

Authors: B R Migeon; H W Moser; A B Moser; J Axelman; D Sillence; R A Norum
Journal: Proc Natl Acad Sci U S A Date: 1981-08 Impact factor: 11.205

9. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts.

Authors: H W Moser; A B Moser; N Kawamura; J Murphy; K Suzuki; H Schaumburg; Y Kishimoto
Journal: Ann Neurol Date: 1980-06 Impact factor: 10.422

10. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.

Authors: H W Moser; A B Moser; K K Frayer; W Chen; J D Schulman; B P O'Neill; Y Kishimoto
Journal: Neurology Date: 1981-10 Impact factor: 9.910

15 in total

Review 1. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

Authors: B M van Geel; J Assies; R J Wanders; P G Barth
Journal: J Neurol Neurosurg Psychiatry Date: 1997-07 Impact factor: 10.154

2. Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis.

Authors: B A van Oost; P M van Zandvoort; W Tünte; H G Brunner; A J Hoogeboom; P D Maaswinkel-Mooy; J Bakkeren; B Hamel; H H Ropers
Journal: Hum Genet Date: 1991-02 Impact factor: 4.132

Review 3. The inborn errors of peroxisomal beta-oxidation: a review.

Authors: R J Wanders; C W van Roermund; R B Schutgens; P G Barth; H S Heymans; H van den Bosch; J M Tager
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

4. 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.

Authors: I Oberlé; G Camerino; C Kloepfer; J P Moisan; K H Grzeschik; B Hellkuhl; M C Hors-Cayla; N Van Cong; D Weil; J L Mandel
Journal: Hum Genet Date: 1986-01 Impact factor: 4.132

10. Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis.

Authors: L D Notarangelo; O Parolini; G Baiguini; F Buzi; C Paterlini; A Perini; M Rimoldi; S Tiberti; G Uziel; L Notarangelo
Journal: Eur J Pediatr Date: 1992-10 Impact factor: 3.183