Chromosomal rearrangement segregating with adrenoleukodystrophy: A molecular analysis

George H. Sack; Mathew Alpern; Thomas Webster; Robert P. Feil; James C. Morrell; Grace Chen; Winston Chen; C. Thomas Caskey; Hugo W. Moser

doi:10.1073/pnas.90.20.9489

Chromosomal rearrangement segregating with adrenoleukodystrophy: A molecular analysis

George H. Sack, Mathew Alpern, Thomas Webster, Robert P. Feil, James C. Morrell, Grace Chen, Winston Chen, C. Thomas Caskey, Hugo W. Moser

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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 θ = 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.

Original language	English (US)
Pages (from-to)	9489-9493
Number of pages	5
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	90
Issue number	20
DOIs	https://doi.org/10.1073/pnas.90.20.9489
State	Published - Oct 15 1993
Externally published	Yes

Keywords

Genetic disease
Linkage
Mutation
Neurodegeneration
X chromosome

ASJC Scopus subject areas

General

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10.1073/pnas.90.20.9489

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title = "Chromosomal rearrangement segregating with adrenoleukodystrophy: A molecular analysis",

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 θ = 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.",

keywords = "Genetic disease, Linkage, Mutation, Neurodegeneration, X chromosome",

author = "Sack, {George H.} and Mathew Alpern and Thomas Webster and Feil, {Robert P.} and Morrell, {James C.} and Grace Chen and Winston Chen and Caskey, {C. Thomas} and Moser, {Hugo W.}",

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T1 - Chromosomal rearrangement segregating with adrenoleukodystrophy

T2 - A molecular analysis

AU - Sack, George H.

AU - Alpern, Mathew

AU - Webster, Thomas

AU - Feil, Robert P.

AU - Morrell, James C.

AU - Chen, Grace

AU - Chen, Winston

AU - Caskey, C. Thomas

AU - Moser, Hugo W.

PY - 1993/10/15

Y1 - 1993/10/15

N2 - 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 θ = 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.

AB - 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 θ = 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.

KW - Genetic disease

KW - Linkage

KW - Mutation

KW - Neurodegeneration

KW - X chromosome

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Chromosomal rearrangement segregating with adrenoleukodystrophy: A molecular analysis

Abstract

Keywords

ASJC Scopus subject areas

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