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Literature DB >> 8415728

Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis.

G H Sack¹, M Alpern, T Webster, R P Feil, J C Morrell, G Chen, W Chen, C T Caskey, H W Moser.

Abstract

The relationship between X chromosome-linked adrenoleukodystrophy and the red/green color pigment gene cluster on Xq28 was investigated in a large kindred. The DNA in a hemizygous male showed altered restriction fragment sizes compatible with at least a deletion extending from the 5' end of the color pigment genes. Segregation analysis using a DNA probe within the color pigment gene cluster showed significant linkage with adrenoleukodystrophy (logarithm of odds score of 3.19 at theta = 0.0). These data demonstrate linkage, rather than association, between a unique molecular rearrangement in the color pigment gene cluster and adrenoleukodystrophy. The DNA changes in this region are thus likely to be helpful for determining the location and identity of the responsible gene.

Entities: Disease

Mesh：

Substances：

Year: 1993 PMID： 8415728 PMCID： PMC47594 DOI： 10.1073/pnas.90.20.9489

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

31 in total

1. Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry.

Authors: M Drummond-Borg; S S Deeb; A G Motulsky
Journal: Proc Natl Acad Sci U S A Date: 1989-02 Impact factor: 11.205

2. Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

Authors: B S Emanuel
Journal: Am J Hum Genet Date: 1988-11 Impact factor: 11.025

3. Tandem array of human visual pigment genes at Xq28.

Authors: D Vollrath; J Nathans; R W Davis
Journal: Science Date: 1988-06-17 Impact factor: 47.728

4. Characterization of five partial deletions of the factor VIII gene.

Authors: H Youssoufian; S E Antonarakis; S Aronis; G Tsiftis; D G Phillips; H H Kazazian
Journal: Proc Natl Acad Sci U S A Date: 1987-06 Impact factor: 11.205

5. Fractionation of large mammalian DNA restriction fragments using vertical pulsed-field gradient gel electrophoresis.

Authors: K Gardiner; W Laas; D Patterson
Journal: Somat Cell Mol Genet Date: 1986-03

6. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

Authors: E R McCabe; J Towbin; J Chamberlain; L Baumbach; J Witkowski; G J van Ommen; M Koenig; L M Kunkel; W K Seltzer
Journal: J Clin Invest Date: 1989-01 Impact factor: 14.808

Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis.

1. Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry.

2. Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

3. Tandem array of human visual pigment genes at Xq28.

4. Characterization of five partial deletions of the factor VIII gene.

5. Fractionation of large mammalian DNA restriction fragments using vertical pulsed-field gradient gel electrophoresis.

6. Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

7. Linkage of adrenoleukodystrophy to a polymorphic DNA probe.

8. Gene deletions in X-linked muscular dystrophy.

9. Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.

10. Frequent alterations of visual pigment genes in adrenoleukodystrophy.

Review 1. DNA diagnosis of X-linked adrenoleukodystrophy.

2. Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.