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