Herrmann F H, Wirth B, Wulff K, Hadlich J, Voss M, Gillard E F, Kruse T A, Ferguson-Smith M A, Gal A
Institut für Medizinische Genetik, Ernst-Moritz-Arndt-Universität, Greifswald, German Democratic Republic.
Arch Dermatol Res. 1989;280(8):457-61. doi: 10.1007/BF00427656.
Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes. Patients in the third family showed the same hybridization pattern as healthy males following molecular hybridization with either of the probes. The results of DNA analysis (indirect genotype diagnosis) agree well with those based on the arysulfatase C/beta-gal determination and prove the reliability of the biochemical test. Both methods are discussed for carrier detection, prenatal diagnosis, and genetic counseling.
使用全长STS cDNA探针和与STS基因紧密连锁的一个匿名多态性DNA序列，对三个患X连锁鱼鳞病（XLI）的家系进行了分析。在其中两个家系的患者中，使用STS和GMGX9（DXS237位点）探针均能检测到亚显微染色体缺失。在与任一种探针进行分子杂交后，第三个家系的患者显示出与健康男性相同的杂交模式。DNA分析（间接基因型诊断）结果与基于芳基硫酸酯酶C/β-半乳糖测定的结果非常吻合，并证明了生化检测的可靠性。对两种方法在携带者检测、产前诊断和遗传咨询中的应用进行了讨论。
