实时荧光定量pcr在临床医学中的应用知识讲稿课件.ppt

* Gene ScanningHigh-Resolution Melting Analysis In this example, the “perfect” result of a Gene Scanning experiment is depicted. In the target LPLH3, a SNP from G into T results in such a destabilization of the amplicon, that both homoduplexes (wildtype and mutant) can be discriminated as well as the heterozygous types. 目标: MBL2 384个样本中筛选突变体 复制子大小 219 bp 共发现序列不同的4个常见组和2个罕见组 文献中共描述了3个多态性位点，频率最高的等位型为以下4种： A) C / G / G B) C / A / G C) C / G / A D) T / G / G 甘露糖结合凝集素(MBL)是先天性免疫系统的重要成分之一,在免疫防御中发挥多重作用。MBL基因多态性与多种疾病易感性、严重程度以及预后密切相关。在免疫系统尚未成熟的儿童,或同时存在原发或继发免疫缺陷的患者,低表达MBL基因型与感染性疾病、自身免疫性疾病的相关性尤其显著。因此,MBL的检测和替代治疗即将应用于个体化医疗。 MBL2 / MBL / COLEC1 蛋白背景综述 Human mannose/mannan-binding lectin (MBL) found in serum belongs to the class of collectins in the C-type lectin superfamily, and is involved in first-line host defense as a key component of innate immunity. MBL monomeric polypeptide consists of a short N-terminal cysteine-rich domain, a collagen-like domain of 18-20 repeats of Gly-Xaa-Yaa with an interruption (Gly-Gln-Gly) and a C-terminal carbohydrate recognition, or lectin, domain. MBL recognizes carbohydrate patterns, such as mannose and N-acetylglucosamine, found on the surface of a large number of pathogenic microorganisms including bacteria, viruses, protozoa and fungi. MBL subunits are comprised of three identical 32kDa polypeptides, followed by formation of the disulfide cross-linked higher order MBL oligomers (400-700 kDa). Although MBL can form several oligomeric forms, there are indications that dimers and trimers are not biologically active and at least a tetramer form is needed for activation of complement. Active MBL forms complex with another protein MASP-2 (MBL-associated serine protease 2) and binds to the microorganisms, and thus leads to the activation of the lectin pathway of the complement system. MBL defects have been associated with susceptibility to autoimmune and infectious diseases. 细胞色素氧化酶P450 2C19(CYP2C19)和 CYP2C9 　　一种p450酶 　　人体内代谢药物的主要