Wieacker P, Griffin J E, Wienker T, Lopez J M, Wilson J D, Breckwoldt M
Hum Genet. 1987 Jul;76(3):248-52. doi: 10.1007/BF00283617.
Three families with androgen resistance syndromes--two with testicular feminization and one with Reifenstein syndrome--have been studied for linkage analysis. Using three cloned DNA sequences from the centromere region and the proximal long arm of the X chromosome (p8, pDP34, and S9, which define respectively the chromosomal segments DXS1, DXYS1, and DXS17), we found no recombination between the DXS1 locus and the mutant genes in the three families. Assuming that these disorders are the result of allelic mutations at the same locus for the androgen receptor, we can conclude that there is a close linkage between DXS1 and the androgen receptor locus, with a maximum lod score zeta = 3.5 at a recombination fraction theta = 0.0 using the LIPED program (Ott 1974).
对三个患有雄激素抵抗综合征的家族——两个患有睾丸女性化综合征，一个患有赖芬斯坦综合征——进行了连锁分析研究。利用来自X染色体着丝粒区域和近端长臂的三个克隆DNA序列（p8、pDP34和S9，它们分别定义了染色体片段DXS1、DXYS1和DXS17），我们在这三个家族中未发现DXS1位点与突变基因之间的重组。假设这些疾病是雄激素受体同一基因座上等位基因突变的结果，我们可以得出结论，DXS1与雄激素受体基因座之间存在紧密连锁，使用LIPED程序（Ott，1974年），在重组率θ = 0.0时，最大对数优势分数ζ = 3.5。
