《医学遗传学 Medical Genetics》课程电子教案（PPT课件讲稿，英文版）13 线粒体疾病 mitochondrial diseases

Medical Genetics What is a population from a genetic perspective? A population in the genetic sense, is not just a group of individuals, but a breeding group

Medical Genetics The normal 46 chromosomes in our body are contained in the center of the cell, which is called the nucleus. Mitochondria are structures in the cell located outside of the nucleus in the cytoplasm, that also contain genes that are separate from the ones in the nucleus

Medical Genetics Multifactorial inheritance is responsible for the greatest number of individuals that will need special care or hospitalization because of genetic diseases

Some disorders result when a mutation causes the product of a single gene to be altered or missing. These disorders are inherited in simple patterns similar to or identical with those described by Mendel for certain discrete characteristics in garden peas. Therefore, it’s also called Mendelian diseases

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 Gene Mutation Change in genes caused by change in structure of the DNA

Medical Genetics Genes are entities that parents pass to offspring during reproduction

Medical Genetics Introduction What is Medical Genetics? Genetic disease Role of Medical Genetics in Medical Education

G e n o m i c s a n d M o l e c u l a r I m a g i n g Fundamental Technology Hurdles Platform Concepts Disease Targets Industry and Academic Partnerships