The Molecular Nature And The Inheritance Pattern Of The Disease / Disorder

1210 Words Aug 29th, 2014 5 Pages
1. Describe the molecular nature and the inheritance pattern of the disease/disorder, ensuring to cite the original research paper that first identified specific genetic & molecular nature of the disease.

Cystic Fibrosis (CF) is an inherited genetic disorder that affects the respiratory and digestive systems. CF is cause by the mutation on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator). This gene will produce a gene that helps in the movement of sodium chloride in and out of cells. When this protein work incorrectly, it will block this movement thus lead to the production of thick sticky mucus outside the cell. CF is an autosomal recessive gene. This means that the affected person had received the two defective genes from each parent. If the person inherits only one copy of the defective gene, then he or she will be a carrier. Carriers don 't have the disease but can pass on to their children

According to Riordan et al. (1989), the gene responsible for CF was discovered by Collins, Tsui and colleagues in 1989. During the night after Tsui and Collins attended a gene-mapping workshop, they are hunting for the cause of CF. They found out that there is a gene that might have a role in transporting ions through cell membranes by looking from its sequence. Then they received a fax which mentioned that most of affected people is lacking three base pairs from both copies of this gene whereas those unaffected person…
Open Document