CAJ | 학술논문

目的检测一个中国汉族人X-性连锁鱼鳞病家系的类固醇硫酸酯酶(STS)基因突变情况.方法收集1个X-性连锁鱼鳞病家系的临床资料,提取外周血DNA,通过PCR扩增外周血基因组DNA类固醇硫酸酯酶基因的第1和第10外显子,以表型正常家系成员及50例健康人为正常对照.结果家系内全部患者均存在STS基因的完全缺失,即10个外显子均缺失,家系中正常人及对照者未发现上述缺失.结论 STS基因的完全缺失可能为导致该家系临床表型的主要原因.
목적 검측일개중국한족인X-성련쇄어린병가계적류고순류산지매(STS)기인돌변정황.방법 수집1개X-성련쇄어린병가계적림상자료,제취외주혈DNA,통과PCR확증외주혈기인조DNA류고순류산지매기인적제1화제10외현자,이표형정상가계성원급50례건강인위정상대조.결과 가계내전부환자균존재STS기인적완전결실,즉10개외현자균결실,가계중정상인급대조자미발현상술결실.결론 STS기인적완전결실가능위도치해가계림상표형적주요원인.
Objective To detect the steroid sulfatase (STS) gene mutation in a Chinese pedigree with X-linked ichthyosis (XLI). Methods Genomic DNA was extracted from the peripheral blood of 3 affected patients and unaffected members in this family and 50 unrelated healthy volunteers followed by the amplification of the exon 1 and exon 10 of STS gene by PCR. Results Complete deletion of the exon 1 to 10 of STS gene was detected in all the patients in this pedigree with XLI, while no mutation was found in this gene in unaffected members of this family or normal human controls. Conclusion The complete deletion of STS gene is likely to be the main cause of the phenotype of XLI in this family.