《医学遗传学 Medical Genetics》课程PPT教学课件（英文版）Mitochondrial Disorder

Medica, Genetics Mitochondrial disorder

Mitochondrial Disorder Medical Genetics

1894, found in animal cell Mitochondrion Peroxisome Plasma membrane Endoplasmic reticulum Ribosomes

1894，found in animal cell

1894, found in animal cell 1897, mitochondrion

1897，mitochondrion 1894，found in animal cell

1894, found in animal cell 1897, mitochondrion 1963, mtDNA

1897，mitochondrion 1963，mtDNA 1894，found in animal cell

Structure of mtDNA Anderson 12STRNA yt b Cambridge sequence 16STRNA E ND 6 NDI 16569bp Q ND 2 N4 G ND3 COXII coxⅡ ATPase8N6 □ ATPase86 Complex 1 tRNAS □ Cytochrome b■ Complex4 IRNA

Structure of mtDNA Anderson & Cambridge sequence

Genetic characteristics 1. Semi-independent Complex Subunits Nuclear mtDNA 41 34 Ⅱ 4 ⅢⅣ 11 13 4002 70132 14 83 70 13

1. 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 Genetic Characteristics

Genetic characteristics 1. Semi-independent 2. Non-universality of the genetic code

1. Semi-independent 2. Non-universality of the genetic code Genetic Characteristics

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

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

Genetic characteristics 1. Semi-independent 2. Non-universality of the genetic code 3. Matrilinealinheritance

1. Semi-independent 2. Non-universality of the genetic code 3. Matrilineal inheritance Genetic Characteristics

Matrilineal Inheritance Mitochondrial DNA Mitochondrial DNA patte m for individuals patte rm for individuals indicated in red indicated in blue Larger DNA 8. 6 kb frag me nts 4.7 kb 678910111213141516 1.4 kb All the progeny of a 1.3 kb particular female have Smaller he same pattern of DNA mitochondrial DNA frag ments 0. 4 kb bands as in the mother

Matrilineal Inheritance