医学遗传学 04基因突变的分子机制e讲义ng v
合集下载
相关主题
- 1、下载文档前请自行甄别文档内容的完整性，平台不提供额外的编辑、内容补充、找答案等附加服务。
- 2、"仅部分预览"的文档,不可在线预览部分如存在完整性等问题,可反馈申请退款(可完整预览的文档不适用该条件!)。
- 3、如文档侵犯您的权益，请联系客服反馈,我们会尽快为您处理(人工客服工作时间：9:00-18:30)。
医学遗传学 04基因突 变的分子机制eng v
精品
Medical Genetics
1.Genes can be mutated in many ways
The most common gene change involves a single base mismatch--a misspelling--placing the wrong base in the DNA. At other times, a single base may be dropped or added. And sometimes large pieces of DNA are mistakenly repeated or deleted.
Medical Genetics
Medical Genetics
A common lof mutation is the partial loss-of-function or "leaky" mutation.
Medical Genetics
Medical Genetics
(6) Gain-of-function mutation (gof)
Medical Genetics
(2) Lethal mutations result in nonviable organisms.
Medical Genetics
(3) Conditional mutations
gives a mutant phenotype under restrictive conditions (environmental) and causes a wild type phenotype under permissive conditions.
Medical Genetics
(4) Biochemical mutations
result in the inability to carry out a specific biochemical pathway (inborn errors of metabolism).
Medical Genetics
Hereditary mutations are carried in the DNA of the reproductive cells. When reproductive cells containing mutations combine to produce offspring, the mutation will be in all of the offspring's body cells.
Medical Genetics
Medical Genetics
When a gene contains a mutation, the protein encoded by that gene is likely to be abnormal.
Medical Genetics
Medical Genetics
Medical Genetics
2. Somatic versus germline mutations
Gene mutations can be either inherited from a parent or acquired.
Medical Genetics
Medical Genetics
result in altered gene function that act as a dominant allele and produces a novel phenotype.
谢 谢 各 位 聆 听
Medical Genetics
The fact that every cell contains the gene change makes it possible to use cheek cells or a blood sample for gene testing.
Medical Genetics
(5) Loss-of-function (null) mutations (lof)
result in no gene function are usually recessive although some haploinsufficient dominant "lof" mutations exist.
Medical Genetics
Medical Genetics
3. Types of mutation effects
(1) Morphological mutations
give rise to altered forms.
Medical Genetics
ห้องสมุดไป่ตู้
Medical Genetics
Medical Genetics
Acquired mutations are changes in DNA that develop throughout a person's lifetime.
Medical Genetics
Although mistakes occur in DNA all the time, especially during cell division, a cell has the remarkable ability to fix them. But if DNA repair mechanisms fail, mutations can be passed along to future copies of the altered cell.
精品
Medical Genetics
1.Genes can be mutated in many ways
The most common gene change involves a single base mismatch--a misspelling--placing the wrong base in the DNA. At other times, a single base may be dropped or added. And sometimes large pieces of DNA are mistakenly repeated or deleted.
Medical Genetics
Medical Genetics
A common lof mutation is the partial loss-of-function or "leaky" mutation.
Medical Genetics
Medical Genetics
(6) Gain-of-function mutation (gof)
Medical Genetics
(2) Lethal mutations result in nonviable organisms.
Medical Genetics
(3) Conditional mutations
gives a mutant phenotype under restrictive conditions (environmental) and causes a wild type phenotype under permissive conditions.
Medical Genetics
(4) Biochemical mutations
result in the inability to carry out a specific biochemical pathway (inborn errors of metabolism).
Medical Genetics
Hereditary mutations are carried in the DNA of the reproductive cells. When reproductive cells containing mutations combine to produce offspring, the mutation will be in all of the offspring's body cells.
Medical Genetics
Medical Genetics
When a gene contains a mutation, the protein encoded by that gene is likely to be abnormal.
Medical Genetics
Medical Genetics
Medical Genetics
2. Somatic versus germline mutations
Gene mutations can be either inherited from a parent or acquired.
Medical Genetics
Medical Genetics
result in altered gene function that act as a dominant allele and produces a novel phenotype.
谢 谢 各 位 聆 听
Medical Genetics
The fact that every cell contains the gene change makes it possible to use cheek cells or a blood sample for gene testing.
Medical Genetics
(5) Loss-of-function (null) mutations (lof)
result in no gene function are usually recessive although some haploinsufficient dominant "lof" mutations exist.
Medical Genetics
Medical Genetics
3. Types of mutation effects
(1) Morphological mutations
give rise to altered forms.
Medical Genetics
ห้องสมุดไป่ตู้
Medical Genetics
Medical Genetics
Acquired mutations are changes in DNA that develop throughout a person's lifetime.
Medical Genetics
Although mistakes occur in DNA all the time, especially during cell division, a cell has the remarkable ability to fix them. But if DNA repair mechanisms fail, mutations can be passed along to future copies of the altered cell.