What are the primary hereditary disorders that are of import

What are the primary hereditary disorders that are of importance in our American patient populations today? Name and discuss any three such disorders.

Solution

Answer :- The primary hereditary disorders that are of importance in american patient population are Downs syndrome, cystic fibrosis, Huntington\'s disease etc.

Downs syndrome:-Its the trisomy of chromosome no. 21 also called mangolism. Those who suffer feom Downs syndrome are mentally retarded, show physical disabilities.

Cystic fibrosis :- CF is caused due to automsomal recessive mutation of gene present on chromosome no. 7 called CFTR (cystic fibrosis transmembrane conductance regulator protein) that maintains and regulates chloride ion transport in the cells. Mutation in this gene causes accumulation of mocus in the lyng alveoli.

Huntington\'s disease:- inherited disorder caused due to loss of brain cells due to their death this affects the mood and mental health of the patient. The disease is autosomal dominant meaning that the single gene in dominant condition can cause the disease thus 50% chances are that a child would carry the disease if one of the parents is affected. It caused due to expansion CAG triplet (cytosine - Adenine-Gaunine) on the gene coding for huntingtin protein.