Module 34: DNA & Disease Association
  Lecture 34:
 

B.  Euploidy: Change (increase or decrease) of complete set of chromosome.

Haploid (n): Have single set of chromosomes.

Diploid (2n): Have two set of chromosomes.

Mutation related Genetic Disorders:

DNA contains its hereditary information in a unit gene which normally resides inside the DNA stretch. These are basic unit of life which governs all the traits and thus any aberration or mutation inside it, leads to harmful effects. Some of the disorders are cited below which are caused due to genetic defects.

Cystic Fibrosis:

Cystic fibrosis is the recessive genetic disorder develops when neither copy in the two genes works normally. Although most of the normal people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. It is caused by a mutation in a gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR) due to deletion of three nucleotides, results loss of one amino acid (phenylalanine) at 508 th position in the protein. This protein is required to regulate the components of sweat,   digestive   juices, and   mucus .

Duchenne Muscular Dystrophy:

DMD is X linked recessive form of muscular dystrophy. This disease is caused by a mutation in the dystrophin gene which is located at the X chromosome in humans (Xp21). Dystrophin is an important component of muscle tissue which provides stability to dystroglycan complex (DGC), located on cell membrane. Since males only have one X chromosome, they only have one copy of DNA that makes this protein and there is no backup. Females have two X chromosomes and so have two copies of the gene. Because males only have a single copy of the gene, this disease is much more common in males. Affected individuals experience muscle weakness throughout their bodies that eventually leads to paralysis and expected life is fewer than 35 years.