MYH9相关综合征家系临床和基因突变分析  

Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome

作　　者：史瑞明[1] 曹晓琴[1] 罗树舫[1] 房夏玲[1] 王荣花[1] 刘志刚[1] 

机构地区：[1]西安交通大学医学院第一附属医院儿科,陕西西安710061

出　　处：《中国当代儿科杂志》2012年第9期678-682,共5页Chinese Journal of Contemporary Pediatrics

摘　　要：目的对MYH9相关综合征家系进行临床表现和相关致病基因分析,探讨其早期诊断的方法和发病机制。方法对一个MYH9相关综合征家系3名患者及家族3代共11人进行外周血检查,采用PCR扩增、DNA直接测序技术进行MYH9基因突变分析。同时进行100名健康对照人群的MYH9基因检测。结果外周血检测发现家系患者血小板减少,血小板体积增大,中性粒细胞中有包涵体。基因检测经PCR-DNA直接测序在先证者MYH9基因第30号外显子发现了碱基G/A错义突变,该突变导致GAC编码的第1424位天冬酰胺(D)突变为AAC编码的天冬氨酸(N),即D1424N突变。家系中患者检出与先证者相同的突变,而家系内健康人和家系外100名健康对照未发现这种突变。结论 MYH9相关综合征患者临床表现不一。MYH9基因突变是该综合征的分子发病机制,D1424N突变是国内未曾报道过的新突变。MYH9相关综合征的早期诊断有赖于家系调查和相关检查的早期开展。Objective To explore the method for early diagnosis and pathogenesis of MYH9-related syndrome through analysis of the clinical manifestation and gene mutation of a Chinese family with MYH9-related syndrome.Methods Peripheral blood samples were collected from a three-generation Chinese family with MYH9-relatedsyndrome（11 individuals,including 3 patients） and 100 healthy individuals.Polymerase chain reaction（PCR） amplification and direct sequencing of DNA were performed to analyze mutations of MYH9 gene.Results Thrombocytopenia,increased volume of platelet,and granulocyte inclusion bodies were found in the patients with MYH9-related syndrome via a peripheral blood test.A missense mutation of a base pair（GA） in exon 30 was revealed by PCR amplification and direct sequencing of MYH9 of the proband.That lead to Asp-Asn substitution at position 1424（D1424N mutation）.The mutation was the same as in other patients with MYH9-related syndrome.It was not found in healthy people from the Chinese family or in the other 100 healthy individuals.Conclusions Patients with MYH9-related syndrome show diverse symptoms.Mutation of MYH9 gene may be the molecular mechanism of MYH9-related syndrome,and D1424N mutation of MYH9 has not been reported in Chinese people.Early diagnosis of MYH9-related syndrome can be carried out by investigating family history and making early examinations.

关 键 词：MYH9相关综合征 MYH9基因 突变 儿童 

分 类 号：R596[医药卫生—内科学]