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目的 鉴定一个May Hegglin异常 (MHA)家系非肌性肌球蛋白重链 9基因 (MYH9)突变的类型及临床表型特点。方法 用聚合酶链反应 (PCR)技术扩增先证者及其父亲的非肌性肌球蛋白重链 9基因 (MYH9)的 2 5、31～ 32、38、4 0号外显子 ,分析PCR产物的核苷酸序列。确定突变位点后 ,分别扩增正常对照、后天获得性血小板减少症患者的对应基因区域并行核苷酸序列分析以资对照。进而进行PCR扩增片段的CpoI(RsrII)限制性内切酶图谱分析。结果 本家系中May Hegglin异常患者具有典型的“血小板减少、巨大血小板、粒细胞包涵体”三连征。先证者及其父亲在MYH9的 38号外显子上第 5 5 2 1位核苷酸存在G→A突变 (GAG→AAG) ,并导致特征性的CpoI限制性内切酶图谱改变。结论 中国人的May Hegglin异常存在MYH9基因突变。本家系中 ,其突变位点位于 38号外显子(G5 5 2 1A) ,MYH9基因突变的传递规律与家系中临床表型分布相符。
Objective To identify the type and clinical phenotype of a mutation in the non-myosin heavy chain 9 gene (MYH9) of a May Hegglin abnormality (MHA) pedigree. Methods Exon 25, 31 ~ 32, 38 and 40 of non-myosin heavy chain 9 gene (MYH9) of proband and his father were amplified by polymerase chain reaction (PCR) The nucleotide sequence of the product. After confirming the mutation sites, the corresponding control regions of normal controls and acquired acquired thrombocytopenia were amplified by parallel nucleotide sequence analysis. Further, CpoI (RsrII) restriction analysis of the PCR amplified fragment was carried out. Results The abnormal May Hegglin patients in this pedigree had the typical triplets of thrombocytopenia, huge platelet and granulocyte inclusion body. The proband and his father have a G → A mutation (GAG → AAG) at nucleotide 522 in MYH9 exon 38 and result in a change in the characteristic CpoI restriction enzyme map. Conclusion MYH9 gene mutation is abnormal in May Hegglin in Chinese. In this pedigree, the mutation locus is located on exon 38 (G5 5 2 1A). The transmission rule of MYH9 gene mutation is consistent with the clinical phenotype distribution in the pedigree.