Literature DB >> 2883927

Linkage of adrenoleukodystrophy to a polymorphic DNA probe.

P R Aubourg, G H Sack, D A Meyers, J J Lease, H W Moser.   

Abstract

Linkage studies between X-linked adrenoleukodystrophy and a cloned deoxyribonucleic acid fragment (St14), which detects polymorphisms in the distal end of the long arm of the X chromosome (Xq27-28), have shown no recombination in six families. The lod score for these data (and another kindred reported earlier is 13.766 at recombination fraction (theta) = 0.0. These data permit assignment of adrenoleukodystrophy carrier status in family members at risk, supplementing the chemical measurement of very-long-chain fatty acids.

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Year:  1987        PMID: 2883927     DOI: 10.1002/ana.410210406

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  24 in total

1.  Adrenoleucodystrophy: a molecular genetic study in five families.

Authors:  R G Del Mastro; S Bundey; M W Kilpatrick
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

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.  Prenatal and perinatal diagnosis of peroxisomal disorders.

Authors:  R B Schutgens; G Schrakamp; R J Wanders; H S Heymans; J M Tager; H van den Bosch
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible.

Authors:  G E Graham; P M MacLeod; D P Lillicrap; P J Bridge
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

5.  Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis.

Authors:  G H Sack; M Alpern; T Webster; R P Feil; J C Morrell; G Chen; W Chen; C T Caskey; H W Moser
Journal:  Proc Natl Acad Sci U S A       Date:  1993-10-15       Impact factor: 11.205

Review 6.  Adrenoleukodystrophy: biochemical procedures in diagnosis, prevention and treatment.

Authors:  P A Watkins; S Naidu; H W Moser
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

Review 7.  Peroxisomal disorders: a review.

Authors:  B Fournier; J A Smeitink; L Dorland; R Berger; J M Saudubray; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 8.  Adrenoleukodystrophy: phenotypic variability and implications for therapy.

Authors:  H W Moser; A B Moser; K D Smith; A Bergin; J Borel; J Shankroff; O C Stine; C Merette; J Ott; W Krivit
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

9.  Color vision defects in adrenomyeloneuropathy.

Authors:  G H Sack; M B Raven; H W Moser
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

10.  Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

Authors:  P Fanen; S Guidoux; C O Sarde; J L Mandel; M Goossens; P Aubourg
Journal:  J Clin Invest       Date:  1994-08       Impact factor: 14.808

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