Ppt on genetics includes mendelian .pptx

Ppt on genetics

1. INTRODUCTION TO GENETICS Study of genes Genes- present on chromosomes Alleles- Two different set of genes acquired from parrents

2. GENETIC DISORDERS Chromosomal- Number, structure defect Single gene- Mendelian and non mendelian Multi factorial- DM, Hypertension etc

3. MENDELIAN INHERITANCE ALLELES: Individual copies of genes for a trait coming from both parents present on same locus. Homozygous vs Heterozygous

4. AUTOSOMAL DOMINANT DISORDERS Expressed in heterozygous state At least 1 parent is affected Male=female Examples: Hereditary sphericytosis PKCD VHL, NF-1, NF-2, Osteogenesis imperfecta

5. AUTOSOMAL RECESSIVE DISORDERS Expressed in homzygous state Early onset and more severe Parents may be carriers Example- Inborn errors of metabolism Cystic fibrosis Wilson, albinism, Lysosomal storage disorders

6. X-LINKED DISORDERS Father to son transmission is zero X linked recessive Lesch-nyhan syndrome Hemophilia A and B Color blindness G 6 PD deficiency

7. X- LINKED DOMINANT Dad gives disease to all dughters Less common Alport syndrom Vit D resistanat rickets Rett syndrome

8. Down syndrome Trisomy 21 Meiotic non disjunction Congenital heart defects Hypotonia Saddle toe Leukemia Duodenal atresia Alziemers

9. Simian crease Mongolian slant Low nasal bridge

10. Turner syndrome Loss of x chromosome 45X0 Cardiac defects bicuspid aortic valve Streak ovaries Short stature Webbed neck Zero barr body