应用多重连接探针扩增技术检测X-性连锁鱼鳞病一家系STS基因

目的：检测X-性连锁鱼鳞病一家系STS基因突变情况。方法：提取先证者(男，31岁)及其父母外周血DNA，父母均无鱼鳞病临床表现，运用多重连接探针扩增技术检测所有成员的STS基因是否存在外显子缺失，若无外显子缺失，运用聚合酶链式反应特异性扩增STS基因，检测是否存在基因突变。结果：家系中先证者为STS基因半合子缺失，其母为STS基因杂合子缺失，其父亲未发现STS基因突变。家系中仅先证者出现鱼鳞病的临床表现。结论：STS基因缺失是该X-性连锁鱼鳞病患者发病的遗传因素。

Detection of mutation in STS gene in one pedigree with X-linked ichthyosis based on multiplex ligation-dependent probe amplification

Objective: To detect the mutation in STS gene in one pedigree with X-linked ichthyosis. Methods: DNA was extracted from the peripheral blood of the proband, a 31-year-old male and his healthy parents. Neither of his parents had clinical manifestations of ichthyosis. The STS gene was detected by multiplex ligation-dependent probe amplification, and then, the gene mutations in STS gene was detected by polymerase chain reaction if STS had no deletion. Results: In the family, the proband had STS gene hemizygosity loss and the mother had STS gene heterozygosity loss. Only the proband showed clinical manifestations of ichthyosis. There was no mutation was found in STS gene in his father. Conclusion: STS gene deletion is the genetic factor of this patient with X-linked ichthyosis.