多组学技术在新生儿遗传代谢疾病筛查中的应用

Multiomics technology for screening of genetic metabolic diseases in newborns

“组学”是从整体水平以全局眼光对机体的生命活动规律进行研究,多组学技术是将2个及以上的单一组学联合起来进行综合分析的技术。新生儿遗传代谢病筛查是指在新生儿出生后,足跟采血进行检测,对危及儿童生命、影响生长发育的疾病进行早期诊断、早期干预,以避免疾病性伤残的技术,国内新生儿遗传代谢病筛查自20世纪80年代开始普及,并通过母婴保健法立法保障实施,目前筛查技术不断提高,根据不同遗传代谢病的特征及临床表型及其生物标记物特点,多组学技术如生化组学、代谢组学、酶学、分子技术等被应用于新生儿疾病筛查,可筛查的病种也不断增加,已经从最初原国家卫生部要求的两病——苯丙酮尿症和先天性甲状腺功能低下筛查发展到氨基酸、有机酸、脂肪酸代谢病以及免疫缺陷病、神经肌肉病等数十种疾病。

“Omics”refers to the study of the laws of life activities of the body from a global perspective at the overall level.Multi omics technology is a comprehensive analysis technique that combines two or more single omics.Neonatal genetic metabolic disease screening refers to the technology of early diagnosis and intervention of diseases that endanger children's lives and affect their growth and development after the birth of a newborn,by taking blood from the heel for testing,in order to avoid disease-related disabilities.The screening of genetic metabolic diseases in newborns in China has been popular since the 1880s and has been implemented through legislation on maternal and infant health care.Currently,screening technology is constantly improving.According to the characteristics and clinical phenotypes of different genetic metabolic diseases and the characteristics of their biomarkers,multi omics technologies such as bioche-mistry,metabolomics,enzymology,and molecular technology have been applied to the screening of neonatal diseases,and the number of diseases that can be screened has also increased.The screening of phenylketonuria and congenital hypothyroidism,originally required by the Ministry of Health,has developed to diseases of amino acids,organic acids,fatty acid metabolism diseases,as well as dozens of diseases such as immune deficiency diseases and neuromuscular diseases.