In the vast majority of cases, hemophilia is caused by mutations in a gene that provides instructions to make a specific clotting factor protein. These mutations are present from the moment a fetus is conceived.The specific gene that is mutated determines the type of hemophilia a person has:...
Using gene therapy for hemophilia treatment is in many ways a promising option, but it also has some drawbacks. On the pro side, hemophilia is an ideal genetic disorder to treat in this fashion, as it occurs due to a single genetic defect. This type of treatment can be considered successfu...
1. What is the most commonly mutated gene found in patients with severe congenital neutropenia (SCN)? 2. What is the normal reference range for neutrophils in a complete blood count (in %)? 3. What is the threshold of qualifying as severe neut...
X-linked disorders: These disorders are caused by a mutated gene on the X chromosome. Some examples of X-linked disorders include hemophilia, Duchenne muscular dystrophy, and Fragile X syndrome. Monogenic diseases can range in severity from mild to severe. Some monogenic diseases are fatal, while...
Males are more likely than females to inherit a genetic disease if the gene for it is: (A) dominant (B) pleiotropic (C) X-linked (D) mutated (E) polygenic Brachydactyly (short fingers) (B) is dominant to the normal conditio...
such as hemophilia A, in which ~50% of patients carry an inversion ofF8Cintron 8 (1), and cystic fibrosis, in which the microdeletion DF508 is present in up to 80% of mutated alleles (16), no predominant or ethnicity-specific mutations were present in the FIX gene in patients with HB...
What is Gene Therapy? Gene therapy is a technique that restores an individual’s abnormal or mutated gene to treat or cure a disease. It works by replacing a disease-causing gene with a healthy copy, deactivating a disease-causing gene that is not functioning properly, or introducing a new...
If a woman has a new mutation in the p53 gene in a skin stem cell, what is the chance that she will pass that mutation on to her offspring (children)? A man who has type B blood (genotype: BB) is married to ...