Hemophilia is a recessive, X linked disease; therefore, genetic segregation and dominance play an important role in the inheritance of hemophilia. The recessive mutated forms of clotting factor VIII and IX are present on the X chromosome. Therefore, the disease is more common in males because they have a single X chromosome and if it has the mutated gene then the person will have hemophilia as unlike females they do not have another X chromosome for compensation. In females, the dominant X chromosome masks the recessive one; therefore, females suffer from hemophilia only if both of their X chromosomes have the mutated gene for hemophilia. The genetic pattern followed in the inheritance of hemophilia is as follows: A carrier female and a hemophilic male will bear daughters having an equal chance of being carriers or hemophiliacs, while the sons have an equal probability of being hemophiliacs or normal.The experimental technique which employs genes for the treatment and prevention of diseases is referred to as gene therapy. The exponential progress in the field of gene therapy has enabled doctors to treat genetic disorders by insertion of genes into the patients’ genome. The concept of gene therapy revolves around various aspects including the replacement of disease causing mutated genes with normal genes, inactivation of mutated genes and the introduction of new genes into the human body for the treatment of diseases.Cystic fibrosis is one of the most common monogenic autosomal recessive diseases. The morbidity and mortality associated with cystic fibrosis can be decreased by the replacement of cystic fibrosis transmembrane conductance regulator (CFTR) gene during the neonatal period. A number of patients have received in vivo gene transfers. Currently, the key areas of concern in the treatment of cystic fibrosis through gene therapy are choice of vector, mode of delivery to airways, genetic information translocation and enhancing the expression level of normalized cystic CFTR gene. Certain viruses behave as vectors and Adenovirus and adeno-associated virus were proposed to be employed in gene therapy for delivering normalized CFTR gene to the airways. However, the use of adeno viruses in humans poses the problem of inducing humoral immunity which is the reason why their use has been limited. The adeno-associated virus does not induce significant inflammation and other adverse effects in both animal and
JONES, P. (2008). Sickle cell disease. New York, NY, Chelsea House Publishers.
RAABE, M. (2008). Hemophilia. New York, Chelsea House.
What is gene therapy? (http://ghr.nlm.nih.gov/handbook/therapy/genetherapy).
Gene therapy in cystic fibrosis By Flotte TR and Laube BL. (http://www.ncbi.nlm.nih.gov/pubmed/11555567).
Genetic Testing (http://ghr.nlm.nih.gov/handbook/testing?show=all).
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