Disease Points

Sickle cell anemia non conservative, miss sense Point mutation,

pleiotropism ( one gene , multiple effects )
Autosomal recessive
Thalassemia Point mutation Autosomal recessive
Beta thalassemia Non sense point mutation , b globin chains
deficiency
Retinitis pigmentosa Genetic Heterogeneity (multiple mutations, same
trait)
Child deafness Genetic heterogeneity
Polymorphism Same gene, multiple alleles
Marfan syndrome Pleiotropy (one gene, multiple effects)
Autosomal dominant
FBN-1 mutation ( 15q21)
Ectopia lentis , mirtal valve prolapse
Vit D
Congenital syphilis Environmental
Congenital hemophilia Genetic
Huntingtons Genetic not congenital , autosomal dominant
CCR5 deletion Prevents HIV
Hereditary anemia Point mutations in non coding regions
Fragile X syndrome Tri nucleotide repeat mutation. ( FMR-1
amplification) mental retardation, X linked
recessive
Cystic fibrosis Autosomal recessive
Hemophilia X linked recessive
Vitamin D-resistant rickets X linked dominant
Ehler danlos syndrome Can be sutosomal dominant or recessive
Post transcriptional modification of mRNA is
stopped
Fibrillar collagen issue
Arthrochalasia : bilateral hip dislocation
Kyphoscoliosis : weird spine ( bent )
Sigmoid colon
Tay sachs Hexosaminidase deficiency
Lipid gmt2 ganglioside accumulation
Neimann Foamy neuron cells
Sphingomyelinease defect
Gaucher Glucosylceramidase deficiency
Glycogen storage diseases  type I. - von Gierke disease - hepatic type
 type II. - Pompe disease - generalized
type (liver, heart, skeletal muscle)
 type V. - McArdle syndrome - skeletal
muscle only
X LINKED RECESSIVE

AUTOSOMAL DOMINANT

AUTOSOMAL RECESSIVE