MacDermot K D, Winter R M, Malcolm S
Hum Genet. 1986 Oct;74(2):172-3. doi: 10.1007/BF00282084.
Genetic linkage studies were carried out in families with X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome). A DNA probe DXYS1 (pDP34), which maps both to the proximal part of the long arm of the X chromosome, Xq13-Xq21, and proximally on Yp, was used to detect a TaqI restriction fragment length polymorphism of the X-chromosomal locus in the DNA samples from 11 families. This locus was found to be closely linked to the X-linked hypohidrotic ectodermal dysplasia locus, with a lod score of 2.66 at recombination fraction (theta) of 0.06 (90% confidence limits 0.01-0.26). Only one crossover was observed in nineteen meioses. This indicates that the probe DXYS1 is closely linked to the X-linked hypohidrotic ectodermal dysplasia locus and is likely to facilitate carrier detection and prenatal diagnosis tests.
对患有X连锁隐性外胚层发育不良（C-S-T综合征）的家族进行了遗传连锁研究。使用了一种DNA探针DXYS1（pDP34），它定位于X染色体长臂的近端部分Xq13-Xq21以及Yp的近端，用于检测来自11个家族的DNA样本中X染色体位点的TaqI限制性片段长度多态性。发现该位点与X连锁隐性外胚层发育不良位点紧密连锁，在重组率（θ）为0.06时连锁值为2.66（90%置信区间0.01-0.26）。在19次减数分裂中仅观察到一次交换。这表明探针DXYS1与X连锁隐性外胚层发育不良位点紧密连锁，可能有助于携带者检测和产前诊断测试。
