宁夏回族迟发性卟啉病一家系UROD基因突变分析

UROD Gene Mutation Analysis of A Pedigree of Ningxia Hui nationality with Porphyria Cutanea Tarda

目的对宁夏地区首个回族迟发型卟啉病(PCT)家系进行uroporphyrinogen decarboxylase(UROD)基因的突变分析,以明确其分子病因。方法收集1个迟发性卟啉家系的外周血标本,用聚合酶链反应(PCR)扩增UROD基因的全部10个外显子,采用直接测序方法获得各外显子序列,并与NCBI网站公布的UROD的标准序列(NC号:000001.10)进行对比,对UROD基因的突变进行分析。结果该家系中的患者均为女性,家系成员UROD基因的10个外显子均扩增成功,与原始序列对比,未发现基因突变。结论 PCT家系UROD基因各外显子未发现突变。

Objective To analyse UROD gene mutation in the first Ningxia Hui family with porphyria cutanea tarda,in order to identify its molecular etiology. Methods Blood samples were collected t^om the pedigree of PCT. We amplified the total ten exons of UROD gene by polymerase chain reaction and got the sequences of all ex- ons by direct sequencing, then compared them with the standard sequence of UROD gene that is published on the NCBI website, （NCBI sequence number：000001. 10） ,in order to find mutation of the UROD gene. Results All of the patients in the family were female, the ten exons of the UROD gene in the pedigree were amplified successfully, there was no gene mutation compared with the original sequence. Conclusions No mutation was found in all the exons of UROD gene with PCT.