《医学遗传学》课程PPT教学课件（留学生 Medical Genetics）04 Chapter Mitochondrial Disorder

The Fourth Chapter Mitochondrial Disorder

The Fourth Chapter Mitochondrial Disorder

Contents The structure and genetics characteristics of mitochondrial DNA The mutation of mitochondrial DNA and mitochondrial genetics disease

Contents ➢ The structure and genetics characteristics of mitochondrial DNA ➢ The mutation of mitochondrial DNA and mitochondrial genetics disease

The structure of mitochondrial DNA 1894,found in animal cell Mitochondrion Golgi complex Peroxisome Nudeus Plasma membrane Endoplasmic reticulum Ribosomes

The structure of mitochondrial DNA ➢ 1894，found in animal cell

The structure of mitochondrial DNA 1894,found in animal cell 1897,mitochondrion

The structure of mitochondrial DNA ➢ 1894，found in animal cell ➢ 1897，mitochondrion

The structure of mitochondrial DNA 1894,found in animal cell 1897,mitochondrion 1963,mtDNA

The structure of mitochondrial DNA ➢ 1894，found in animal cell ➢ 1897，mitochondrion ➢ 1963，mtDNA

The structure of mitochondrial DNA >Anderson Cambridge sequence Encode 13 kinds protein, 12S IRNA Cyt b 22 kinds tRNA,2 kinds rRNA 16S IRNA No introns ND6 ND5 >Two strands,H strand NDI 16569bp (outside),L strand (inside) ND2 401 ND 4 RND COXI G ND3 0 CoxI C0XⅡ ATPase 816 □ATPa3e86 □Complex1 ☐tRNAs ☐Cytochrome b☐Complex4 ☐IRNAs

➢ Anderson & Cambridge sequence The structure of mitochondrial DNA ➢ Encode 13 kinds protein, 22 kinds tRNA,2 kinds rRNA ➢ No introns ➢ Two strands, H strand (outside), L strand (inside)

The genetics characteristics of mitochondrial DNA >Semi-independent Complex Subunits Nuclear mtDNA I 41 34 7 I 4 4 0 瓜 11 10 1 V 13 10 3 V 14 12 2 83 70 13

➢ Semi-independent Complex Subunits Nuclear mtDNA Ⅰ 41 34 7 Ⅱ 4 4 0 Ⅲ 11 10 1 Ⅳ 13 10 3 Ⅴ 14 12 2 83 70 13 The genetics characteristics of mitochondrial DNA

The genetics characteristics of mitochondrial DNA >Semi-independent Non-universality of the genetic code

➢ Non-universality of the genetic code The genetics characteristics of mitochondrial DNA ➢ Semi-independent

Variations in the Genetic Code Codon Universal code mtDNA UGG Trp Trp UGA Stop Trp AGG Arg Stop AGA Arg Stop AUG Met Met AUA lle Met

Variations in the Genetic Code Codon Universal code mtDNA UGG Trp Trp UGA Stop Trp AGG Arg Stop AGA Arg Stop AUG Met Met AUA Ile Met

The genetics characteristics of mitochondrial DNA >Semi-independent Non-universality of the genetic code Matrilineal inheritance

➢ Matrilineal inheritance ➢ Non-universality of the genetic code The genetics characteristics of mitochondrial DNA ➢ Semi-independent