【摘要】 目的检测1例散发性棘状秃发性毛囊角化病患者MBTPS2基因及SAT1基因突变。方法提取患者及其双亲与100名健康志愿者外周血基因组DNA,采用聚合酶链反应(PCR)特异性扩增MBTPS2基因与SAT1基因的全部外显子及相邻的内含子片段,纯化后对PCR产物进行直接测序。结果该例患者及其双亲在MBTPS2基因与SAT1基因未发现任何突变。讨论该例患者未检测到目前已知棘状秃发性毛囊角化病所有致病基因的任何突变,可能存在未知的致病基因突变。更多还原

【Abstract】 Objective To detect MBTPS2 and SAT1 gene mutations in one sporadic patient with keratosis follicularis spinulosa decalvans. Methods Genomic DNA was extracted from peripheral blood samples of the pedigree members and 100 healthy volunteers. All exons and adjacent introns were specifically amplified by utilizing polymerase chain reaction(PCR). All the PCR products were purified and sequenced directly. Results No mutation was detected in either the MBTPS2 gene or the SAT1 gene. Conclusion No mutation was found in either of the two probable causative genes which had been reported of keratosis follicularis spinulosa decalvans. There are other probable underlying causative genes for this disease.更多还原