Advances in Molecular Biotechnology_2013.pdf - Classes at U. of L.
Advances in Molecular Biotechnology_2013.pdf - Classes at U. of L.
Advances in Molecular Biotechnology_2013.pdf - Classes at U. of L.
Create successful ePaper yourself
Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.
Monogeneous human diseases<br />
Disease Frequency Inheritance model Mut<strong>at</strong>ed gene/ Symptoms<br />
per 1000<br />
changed prote<strong>in</strong><br />
births<br />
Hemophilia A 0.1 l<strong>in</strong>ked with chromosome X factor VIII abnormal bleed<strong>in</strong>g<br />
Hemophilia B 0.03 l<strong>in</strong>ked with chromosome X factor IX abnormal bleed<strong>in</strong>g<br />
Duchene muscular 0.3 l<strong>in</strong>ked with chromosome X dystroph<strong>in</strong> muscle dystrophy<br />
dystrophy<br />
Becker muscular 0.05 l<strong>in</strong>ked with chromosome X dystroph<strong>in</strong> muscle dystrophy<br />
dystrophy<br />
Fragile X syndrome 0.5 l<strong>in</strong>ked with chromosome X FMR1 mental retard<strong>at</strong>ion<br />
Hunt<strong>in</strong>gton disease 0.5 autosomal, dom<strong>in</strong>ant Huntigton dementia<br />
Neur<strong>of</strong>ibrom<strong>at</strong>osis 0.4 autosomal, dom<strong>in</strong>ant NF-1,2 tumor<br />
Thalassemia 0.05 autosomal, recessive glob<strong>in</strong>s anemia<br />
Sickle-cell anaemia 0.1 autosomal, recessive b-glob<strong>in</strong> anemia, ischemia<br />
Phenyloketonuria 0.1 autosomal, recessive phenylalan<strong>in</strong>e <strong>in</strong>ability to metabolize<br />
hydroxylase phenyloalan<strong>in</strong>e<br />
Mucoviscidosis 0.4 autosomal, recessive CFTR lung damage<br />
(cystic fibrosis)
Change language