Schempp W, Müller G, Scherer G, Bohlander S K, Rommerskirch W, Fraccaro M, Wolf U
Institut für Humangenetik und Anthropologie der Universität, Freiburg i. Br., Federal Republic of Germany.
Hum Genet. 1989 Jan;81(2):144-8. doi: 10.1007/BF00293890.
By in situ hybridization, Y-specific DNA sequences were localized on Xp22.3-Xpter of one of the two X chromosomes in all of eleven XX males studied. In nine of the cases the presence of the Y-specific DNA did not affect random X inactivation in fibroblasts. Fibroblasts of the other two cases showed a preferential inactivation of the Y DNA-carrying X chromosome. In only one of these two exceptions blood lymphocytes could also be studied, and here, random inactivation of the Y DNA-carrying X chromosome occurred. Furthermore, the gene dosage of steroid sulfatase (STS) was examined by Southern blot analysis. In ten of the cases including the one showing random X-inactivation in lymphocytes but not in fibroblasts, a double dosage of the STS gene is present. The remaining case with non-random inactivation shows a single STS gene dosage. This case was reported previously to have STS enzyme activity in the male range. It is assumed that, as a consequence DNA sequences may result in the preferential inactivation of the Y DNA-carrying X chromosome.
通过原位杂交，在所有11名XX男性中，Y特异性DNA序列定位于两条X染色体之一的Xp22.3 - Xpter区域。在9例中，Y特异性DNA的存在不影响成纤维细胞中随机的X染色体失活。另外两例的成纤维细胞显示携带Y DNA的X染色体优先失活。在这两个例外情况中，仅对其中1例的血液淋巴细胞进行了研究，结果显示携带Y DNA的X染色体随机失活。此外，通过Southern印迹分析检测了类固醇硫酸酯酶（STS）的基因剂量。在包括1例淋巴细胞中显示随机X染色体失活但成纤维细胞中未显示的10例中，存在双倍剂量的STS基因。其余非随机失活的病例显示单倍剂量的STS基因。该病例先前报道具有男性水平的STS酶活性。据推测，DNA序列可能导致携带Y DNA的X染色体优先失活。
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