CAJ | 학술논문

目的探讨Wiskott-Aldrich综合征(WAS)患儿的临床特点、基因及蛋白表达.方法 1.收集在广西医科大学第一附属医院儿科就诊的1例WAS患儿的临床资料,收集该患儿及其母亲的血样提取DNA,采用聚合酶链反应(PCR)技术对WAS基因编码的蛋白(WASP)的12个外显子进行扩增,然后进行双向测序,用Western blot对蛋白表达情况进行分析.2.通过中国知网、中国期刊全文数据库检索1991年1月至2013年10月报道的有临床资料和明确基因诊断的WAS文献,结合广西医科大学第一附属医院收治的1例忠儿,回顾性分析我国WAS表型与基因型及蛋白表型之间的关系.结果 1.本例忠儿有典型的WAS表型,临床表型评分为4分,经基因检测患儿WAS基因外显子1存在无义突变,c.71C＞T(p.R13X),患儿母亲基因检测正常;Wes-tern blot分析患儿WASP缺失(WASP-),患儿母亲蛋白表达正常.患儿为自发突变.2.通过检索,我国共报道WAS患儿53例,均为男性患儿,最小发病年龄1 d,最大发病年龄3岁,其中49例临床表现为典型的WAS三联征,4例临床表现为X-连锁血小板减少症(XLT).免疫学检查缺乏特异性,突变基因分布在除4、5、6、9、12之外的各个外显子及1、3、6、7、8、9、11的内含子上.蛋白检测大多为阴性.结论对出生后有反复感染、持续血小板减少和湿疹的男性患儿,应考虑忠WAS的可能性,基因诊断为诊断本病的金标准,检测蛋白有助丁进一步明确忠儿临床表型、基因型和蛋白表型三者之间的关系.
목적 탐토Wiskott-Aldrich종합정(WAS)환인적림상특점、기인급단백표체.방법 1.수집재엄서의과대학제일부속의원인과취진적1례WAS환인적림상자료,수집해환인급기모친적혈양제취DNA,채용취합매련반응(PCR)기술대WAS기인편마적단백(WASP)적12개외현자진행확증,연후진행쌍향측서,용Western blot대단백표체정황진행분석.2.통과중국지망、중국기간전문수거고검색1991년1월지2013년10월보도적유림상자료화명학기인진단적WAS문헌,결합엄서의과대학제일부속의원수치적1례충인,회고성분석아국WAS표형여기인형급단백표형지간적관계.결과 1.본례충인유전형적WAS표형,림상표형평분위4분,경기인검측환인WAS기인외현자1존재무의돌변,c.71C＞T(p.R13X),환인모친기인검측정상;Wes-tern blot분석환인WASP결실(WASP-),환인모친단백표체정상.환인위자발돌변.2.통과검색,아국공보도WAS환인53례,균위남성환인,최소발병년령1 d,최대발병년령3세,기중49례림상표현위전형적WAS삼련정,4례림상표현위X-련쇄혈소판감소증(XLT).면역학검사결핍특이성,돌변기인분포재제4、5、6、9、12지외적각개외현자급1、3、6、7、8、9、11적내함자상.단백검측대다위음성.결론 대출생후유반복감염、지속혈소판감소화습진적남성환인,응고필충WAS적가능성,기인진단위진단본병적금표준,검측단백유조정진일보명학충인림상표형、기인형화단백표형삼자지간적관계.
Objective To explore the clinical and genetic characteristics,protein expression of Wiskott-Aldrich syndrome (WAS).Methods 1.Clinical data of a Chinese sick boy patient who was treated in the First Affiliated Hospital of Guangxi Medical University was collected,and DNA samples were obtained from the patient and his mother,12 WAS gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing,and then the protein expression was analyzed by Western blot.2.China National Knowledge Infrastructure (CNKI) was searched to identify the clinical data and clear genetic diagnosis of WAS literature from Jan.1991 to Oet.2013,combined with the case of WAS patient treated in this hospital,and a retrospective relationship analysis was made among WAS phenotype,genotype and protein phenotype in China.Results 1.The boy had a classical WAS phenotype,his clinical scores were 4.Sequencing revealed a nonsense mutation in exon 1,c.71C ＞ T (p.R13X).Western blot analysis revealed WASP-.The patient's mother was normal It's a de novo mutation in the patient.2.Other 53 cases of WAS patients had been reported,and they were all are male children,onset age from 1 day to 3 years.Forty-nine cases of typical WAS views,4 cases of X-linked thrombocytopenia (XLT).Immunological tests lack of specificity,mutant gene distribute in each exons except 4,5,6,9,12 and 1,3,6,7,8,9,11 introns.Protein detection was mostly negative.Conclusions Affected males who presented recurrent infections,persistent thrombocytopenia and eczema,should be considered to have the possibility of suffering from the WAS.Genetic diagnosis is the golden standard to diagnose the disease.And detection of protein expression can help define the relationship amone phenotype,genotype and protein phenotype.