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在常规染色体核型分析基础上,近年来又发展了串联质谱、气相色谱-质谱,致病基因检测及染色体微缺失检测技术。这些技术对到儿童保健门诊就诊的发育迟缓儿童的病因学诊断起到了非常重要的作用。但是由于目前儿童保健医生对这几种技术的临床适应症掌握还不够全面。有些应该做遗传代谢病筛查或基因检测的患儿却做了染色体检查。有些应该做基因突变分析的患儿却做了遗传代谢病检测,从而导致了诊断延误和患者不必要的花费。因此,临床医生应掌握遗传学技术的适应症,并根据患者临床特征首选相应的检测技术。这些技术具有互补性,又彼此不能完全替代。下面就结合实例对这些新发展的遗传学技术做相关适应症介绍。
On the basis of conventional chromosome karyotype analysis, tandem mass spectrometry, gas chromatography-mass spectrometry, pathogenic gene detection and chromosome microdeletion detection technology have been developed in recent years. These techniques play a very important role in the etiological diagnosis of children with stunting in child-care clinics. However, due to the current pediatrician’s clinical mastery of these technologies is not comprehensive enough. Some should do genetic metabolic disease screening or genetic testing of children have done a chromosomal examination. Some children who are supposed to do genetic mutation analysis do genetic metabolic tests, leading to delays in diagnosis and unnecessary costs for patients. Therefore, clinicians should master the indications of genetic technology, and according to the clinical features of patients preferred the appropriate detection technology. These technologies are complementary and can not completely replace each other. The following combination of examples of these newly developed genetics technology to do related indications.