与肾上腺脑白质营养不良相关的染色体重排：分子分析

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

Kennedy-Krieger Institute, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287.

Proc Natl Acad Sci U S A. 1993 Oct 15;90(20):9489-93. doi: 10.1073/pnas.90.20.9489.

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.

在一个大家系中研究了X染色体连锁的肾上腺脑白质营养不良与位于Xq28的红/绿色素基因簇之间的关系。一名半合子男性的DNA显示限制性片段大小改变，这与至少一个从色素基因5'端延伸的缺失相符。使用色素基因簇内的DNA探针进行的分离分析显示与肾上腺脑白质营养不良有显著连锁（在θ = 0.0时，优势对数得分为3.19）。这些数据证明了色素基因簇中独特的分子重排与肾上腺脑白质营养不良之间存在连锁关系，而非关联关系。因此，该区域的DNA变化可能有助于确定致病基因的位置和身份。