前言:在人类细胞遗传学中,荧光分子技术的出现带来了一些染色体研究和诊断的新方法。
Introducetion: in human cytogenetics, the advent of fluorescence molecular techniques has brought forth new procedures for chromosome investigation and diagnosis.
已发现至少有13种基因的突变可导致家族性肥厚型心肌病,加深对其分子遗传学的认识有利于促进该病的诊断和治疗。
At least 13 genes mutation has now been identified to cause FHCM. Understanding the molecular genetics mechanisms will provide new avenues for diagnosis and treatment for FHCM.
对OSA的分子遗传学研究可帮助理解OSA的病因和发病机理,并能促进对OSA的基因诊断和预防。
The molecular genetic research on OSA can assist us in understanding the pathogenesis of OSA and promote genetic diagnosis and prevention of OSA.
现代生物化学与人类遗传学相互渗透,从分子水平探讨基因变化,从而进行诊断和治疗。
Modern biological chemistry saturates human hereditism each other. Genetic changes are studied from molecule level in order to do treatment.
目的:建立临床实用的快速检出染色体病新的分子细胞遗传学方法,为指导优生优育和产前诊断工作提供可运行的实验检测手段。
Objective: to establish a new, rapid and clinical practical molecular cytogenetic method for diagnosing the chromosomal diseases as well as guiding aristogenesis and prenatal diagnosis.
目的:建立临床实用的快速检出染色体病新的分子细胞遗传学方法,为指导优生优育和产前诊断工作提供可运行的实验检测手段。
Objective: to establish a new, rapid and clinical practical molecular cytogenetic method for diagnosing the chromosomal diseases as well as guiding aristogenesis and prenatal diagnosis.
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