摘要
遗传性May-Hegglin异常是由人类第22条染色体上基因MYH9突变所引起的,是一种罕见的人体常染色体显性遗传病。该病的临床突出特征为巨大血小板、白细胞包涵体和血小板减小症。MYH9基因突变如何引起、发展、最终形成May-Hegglin异常的分子病理机制,有待进一步深入研究。
May-Hegglin anomaly is a rare inherited autosomal dominant platelet disorder, caused by a mutati of the MYH9 gene, which localized on ehromosome 22q12.3-q13.2, anti encoding non-muscle myosin heavy chain A. The most significant diagnosis is based on abnormally large platelets, leucocytic inclusions and thrombocytopaenia, which predisposes patients to bleeding disorders. The molecular basis for this genotype-phenotype relationship is not very clear.
出处
《生物技术通讯》
CAS
2007年第3期524-526,共3页
Letters in Biotechnology
