CAJ | 학술논문

目的对1例近亲婚配所致的眼皮肤白化病(OCA)患者相关基因进行研究,确定致病基因并阐明突变类型.方法应用聚合酶链反应、DNA序列测定、基于PCR的染色体步移技术(PCR-Walking)、横跨越断裂点的单管多重PCR(Gap-PCR)和生物信息学分析方法,对患者家系进行突变筛查和新突变鉴定.结果患者膜相关转运蛋白(MATP)基因存在包含整个外显子3在内的6365 bp大片段缺失,缺失范围为c.562-1118(±2)_c.885+ 4923(±2).该突变为OCA4型致病性突变,患者基因型为该缺失突变纯合子.结论首次发现并确定了一种OCA4型大片段缺失突变.
목적 대1례근친혼배소치적안피부백화병(OCA)환자상관기인진행연구,학정치병기인병천명돌변류형.방법 응용취합매련반응、DNA서렬측정、기우PCR적염색체보이기술(PCR-Walking)、횡과월단렬점적단관다중PCR(Gap-PCR)화생물신식학분석방법,대환자가계진행돌변사사화신돌변감정.결과 환자막상관전운단백(MATP)기인존재포함정개외현자3재내적6365 bp대편단결실,결실범위위c.562-1118(±2)_c.885+ 4923(±2).해돌변위OCA4형치병성돌변,환자기인형위해결실돌변순합자.결론 수차발현병학정료일충OCA4형대편단결실돌변.
Objective To clarify the pathogencity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family. Methods Polymerase chain reaction (PCR) and automatic DNA sequencing methods,chromosome walking by PCR amplification techniques (PCR-Walking),multiplex PCR in a single PCR tube with 3 primers bridging the breakpoint (Gap-PCR) and bioinformatic analysis were employed for screening the mutations and identifying the novel mutation in the patient and his family.Results A pathogenic deletion of 6365 bp was found in MATP gene with a range of c.562-1118 ( ± 2 ) to c.885 + 4923 ( ± 2).The patient was homozygous for deletion mutation.Conclusion A large deletion mutation was first detected and identified in OCA4.