另外，PCR -ACRS是一种快速、可靠的检测基因点突变的有效途径。
Furthermore, PCR-ACRS was a fast and safe method for gene mutation screening.
结论这些结果表明，红细胞CR 1基因点突变率升高与免疫发病机理有相关性。
Conclusions These results can indicate that the spot mutation of ECR1 gene in young patients with malignancy may be related to immunopathological mechanism.
目的：探讨ABCB 4基因点突变与妊娠期肝内胆汁淤积症(ICP)发病的关系。
AIM: To investigate the relationship between the point mutation of ABCB4 gene and intrahepatic cholestasis of pregnancy (ICP).
方法：根据MBL基因序列设计引物建立MBL基因点突变检测方法即PCR -RFLP ；
Methods:The method for MBL point mutation detection(PCR-RFLP) was Established with self-designed primers according to MBL genomic sequence;
抗叶酸类抗疟药的抗药性机制已基本搞清，与其作用靶酶二氢叶酸还原酶或二氢蝶酸合成酶基因点突变相关。
The molecular mechanism of resistance to the antifolates has been well characterisied and is due to structural changes in the target enzymes resulting from the point mutations of DHFR or DHPS gene.
随着新等位基因在每个群体中独立突变产生，它们在许多遗传位点上的等位基因频率逐渐变得越来越不同。
Their allele frequencies at numerous genetic loci gradually become more and more different as new alleles independently arise by mutation in each population.
一种治疗药物以突变的基因为靶点，该基因突变后能让肿瘤细胞持续增多。另一种药物能激活病患免疫系统对抗疾病。
One drug specifically targets a mutated gene that tells a cancer cell to grow, the other boosts a patient's immune system in the fight against the disease.
我们发现胰腺癌平均含有63个基因的改变，大多数为点突变。
We found that pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations.
我们把该列表交给了大学，制药厂，生物科技公司，开始开发新的药物，因为这些突变基因及其蛋白质是新的治疗靶点。
We hand that list over to the universities, the pharmaceuticals, the biotech companies to start developing new drugs because those mutated genes and their proteins are targets for new therapeutics.
结论本类脂质蛋白沉积症家系存在新的ECM 1基因突变位点。
Conclusion a new compound heterozygous mutation of ECM1 gene was identified in this LP family.
目的：探讨ABCB4基因外显子23点突变与妊娠期肝内胆汁淤积症（ICP）发病的关系。
Objective To investigate the relationship between the point mutation of ABCB4 gene exon 23 and the intrahepatic cholestasis of pregnancy (ICP).
运用核酸酶保护试验观察rb基因的点突变现象。
Applying RNase Protection assay, the point mutation in the RB gene was observed.
目的对广东地区汉族人群的甘露聚糖结合凝集素结构基因第一外显子第54位密码点突变（GGC54GAC）进行初步筛查。
Objective To screen the point mutation at the codon 54(GGC54GAC) in the first exon of the mannan binding lectin (MBL) gene in Hans from Guangdong.
结论：IFABP基因54位点突变频率分布与种族无关，而可能与年龄、高脂饮食习惯相关。
CONCLUSION: Distribution of frequency of mutation at 54 Thr of IFABP gene is not associated with race, but possible associated with age and high-fat eating habit.
目的鉴定并分析1个新的肾上腺脑白质营养不良家系的基因突变类型和位点。
Objective To identity the ABCD1 gene mutation in a Chinese family with X-linked adrenoleukodystrophy (ALD).
目的：研究慢性乙型肝炎肝肾阴虚证HBV基因突变点的分布规律。
Objective:To study distribution rule of HBV gene mutation sites in chronical hepatitis B with Yin deficiency of liver and kidney syndrome.
本病有家族遗传倾向，遗传学研究呈非单一性遗传特点，其致病基因及突变位点表现多样。
The disease has a familial hereditary tendency, genetic research shows a non-singleness genetic character, and the manifestations of its pathogenic gene and mutation site are various.
伴随DNA改变的基因损伤会导致基因的点突变、染色体间基因移位和扩增性基因复制。
Genetic damage with DNA alterations leads to point mutations of genes, translocations of genetic material between chromosomes, and gene reduplication with amplification.
方法用反向点杂交法(rdb)诊断患儿的基因突变点。
Methods the gene mutations were diagnosed by the reverse dot blot (RDB).
毛球标本的线粒体点突变检测率高于血液，因此在线粒体相关疾病的基因分析中具有较高的临床应用价值。
The point mutation detection rate of hair follicles was higher than that of blood. So, hair follicles have the potent clinical application value for the genetic analysis of mitochondrial diseases.
目的：探讨宁夏汉族人群中甘露糖结合凝集素(MBL)基因54位点多态性，为进一步研究MBL基因突变与乙型肝炎间的关联性提供依据。
Objective: To discuss mannose binding lectin (MBL) gene polymorphisms at 54 locus of Han population in Ningxia for further research on relationship of MBL gene mutation and HBV infection.
方法采用多核细胞法研究肿瘤患者外周血淋巴细胞HPRT基因位点的突变频率，并与正常人群进行对比。
Methods A simple, rapid and sensitive poly-nuclear cell assay was used to investigate the frequency of HPRT locus mutation.
这些突变分布于atm基因整个编码区，每个外显子都存在基因变异位点，没有发现明显的突变热点。
These gene mutation distributing in all over the whole coding section of ATM gene. Every Exon exist the gene mutated site and no obvious hot mutated site be discovered.
结论COL7A1基因剪接位点的突变是引起该家系临床症状的特异突变，而非多态性改变。
Conclusions The splicing mutation of COL7A1 gene is the underlying cause of and specific rather than common polymorphism for the family with dystrophic epidermolysis bullosa pruriginosa subtype.
目的探索H BV作为基因治疗载体的可能性及检验HBV点突变表达显性阴性突变体抗hbv的作用。
Objective to explore the possibility of using HBV as a gene delivery vector, and to test the anti-HBV effects by intracellular expression of dominant negative mutants of core protein.
目的对小睑裂综合征家系患者的FOXL2基因突变进行研究，寻找突变位点。
Objective To screen mutations in the forkhead transcriptional factor 2 gene (FOXL2) in six Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome(BPES).
应用线粒体基因A1555G突变检测试剂盒检测线粒体基因1555位点的突变情况；
The genetic testing kit for mtDNA A1555G mutation was used to detect mtDNA A1555G mutation.
目的研究P53基因第5～6外显子点突变与儿童白血病发生之间的关系。
Objective To discuss the relation between exon5-6point mutations of P53gene and occurrence of leukemia in children.
目的建立一种简便、实用的检测亚甲基四氢叶酸还原酶(MTHFR)等位基因C677 T点突变的方法，并初步观察部分健康老人和老年血管性痴呆(VD)患者中mthfr等位基因C677 T点突变情况。
Objective to establish a simple and practical method for detecting the MTHFR gene C677T mutation so as to investigate MTHFR genotypes in the healthy elder and Vascular Dementia (VD).
目的建立一种简便、实用的检测亚甲基四氢叶酸还原酶(MTHFR)等位基因C677 T点突变的方法，并初步观察部分健康老人和老年血管性痴呆(VD)患者中mthfr等位基因C677 T点突变情况。
Objective to establish a simple and practical method for detecting the MTHFR gene C677T mutation so as to investigate MTHFR genotypes in the healthy elder and Vascular Dementia (VD).
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