Houdayer C I, Toutain A, Ronce N, Lefort G, Sarda P, Taib J, Briault S, Lambert J C, Moraine C I
Unité de Génétique, Hôpital Bretonneau, CHU de Tours, France.
Ann Genet. 1993;36(4):194-9.
Linkage analysis was performed in a three generation family with three males affected by the recently delineated X-linked form of alpha-thalassemia/mental retardation syndrome (ATR-X). Results are in agreement with the linkage study reported by Gibbons et al in 1992 and further confirm that the ATR-X gene is located in proximal Xq. Positive LOD scores were obtained for several markers situated in the pericentromeric region. A maximum LOD score of 2.09 at a recombination fraction of 0 was obtained for DXS453 located at the boundary q12-q13.1. The nearest flanking loci demonstrating recombination with the disease locus were AR at Xq11.2-q12 on the centromeric side and DXS72 at Xq21.1 on the telomeric side. Consequently the authors were able to reduce the previously defined candidate region for the gene location. Their results are compatible with a distal boundary at Xq21.1 instead of q21.31.
对一个三代家系进行了连锁分析，该家系中有三名男性患有最近确定的X连锁型α地中海贫血/智力发育迟缓综合征（ATR-X）。结果与吉本斯等人1992年报道的连锁研究一致，并进一步证实ATR-X基因位于Xq近端。在着丝粒周围区域的几个标记上获得了正的连锁对数得分。位于q12-q13.1边界的DXS453在重组率为0时获得了2.09的最大连锁对数得分。在着丝粒侧Xq11.2-q12处的AR和在端粒侧Xq21.1处的DXS72是显示与疾病位点发生重组的最邻近侧翼基因座。因此，作者能够缩小先前定义的基因定位候选区域。他们的结果与Xq21.1而不是q21.31处的远端边界相符。
