point mutation

Human Papilloma Virus Infection and p53 Point Mutation in Laryngeal Neoplasms

喉部肿瘤HPV感染与p53基因变异的研究

Result: We had not point mutation in all subjects.

结果: 所有对象均未检测到点突变.

A point mutation is foundin two patients at nucleotide 31119 , resulting in G ( CGA ) to A ( CAA ).

发现这两例都发生在31119位的碱基替换, G ( CGA ) →A ( CAA ).

A point mutation at codon 12 of the Ki-ras oncogene in myelodysplastic syndrome

骨髓增生异常综合征和急非淋白血病患者Ki－ras癌基因12位密码子点突变

Conclusion Abore point mutation is an inherited gene mutation.

结论表明该突变为一遗传性突变.

Conclusion: The point mutation in this area of mitochondrial DNA might not be related hereditary ataxia.

结论: 遗传性共济失调的发生、发展可能与该区域点突变无关.

There are multiple molecular mechanisms that can cause genetic disorders such as point mutations, splicing site mutation, insertion/ deletion mutations, gene duplication, complex rearrangements and gene copy number abnormalities.

引起遗传性疾病的分子机制有多种，常见的有点突变、小片段插入/缺失突变、拼接位点突变、外显子缺失/重复突变、基因重复和复杂重排及基因拷贝数异常等。

Detection of Keratin 10 Gene Point Mutation in a Family with Bullous Congenital Ichthyosiform Erythroderma by PCR and DNA Sequencing

聚合酶链反应-DNA测序检测大疱性先天性鱼鳞病样红皮病家系角蛋白K10基因点突变

Results Two polypoid adenoma cases were found Ki ras point mutation positive.

结果两例息肉性腺瘤组织中1/2（50%）发生了Ki ras点突变。