Gene Type: BRCA1 - Research Paper Example

BRCA1 is a gene that belongs to a group of genes called Tumor suppressors. BRCA1 is responsible for providing instructions used in repairing defective or damaged DNA through Non-homologous End Joining (NHEJ). Since double helix strands of DNA undergo continuous breakage, it is the function of BRCA1 proteins to repair broken strands. BRCA1 proteins restore broken strands of DNA by utilizing homologous sequences from either sister chromatid or from same chromosome. Repair process of DNA entails wrapping of cell nucleus around histone to form histone-DNA complex.

In cell nucleus, BRCA1 proteins normally combine with RAD51 in maintaining stability of human genome by repairing broken strands of DNA. Another function of BRCA1 proteins is that it inhibits nuclease activity of MRN complex and Mre 11 by possessing high affinity for the branched structures of DNA. As a result, BRCA1 gene promotes high fidelity for DNA repair using NHEJ. BRAC1 and BRAC2 BRAC1 refers to Breast Cancer Susceptibility gene 1 while BRAC2 stands for Breast Cancer Susceptibility Gene 2 (Malone, Daling & Doody 8299).

These two human genes belong to a group of genes called tumor suppressors. Ovarian cancer and heredity breast normally arises from mutation of these two genes. When a woman inherits destructive BRAC1 or BRAC2 during mutation, she stands a high risk of developing ovarian or breast cancer. However, men also have stands elevated risks of suffering from breast cancer when mutation of these two genes takes place in their bodies. In normal human cells, BRAC1 and BRAC2 ensure that genetic material or DNA is stable.

In addition, these two genes are responsible for preventing any uncontrolled growth of cells in human body (Malone, Daling & Doody 8299). Effects of Mutation When an individual is born with a particular mutation or experiences mutations in the entire lifetime, a number of changes occur in the bodies of these individuals. Some mutations are deleterious or harmful while some gene changes are beneficial. In harmful mutations, an individual is likely to suffer from various diseases such as cancer.

For instance, a woman stands a lifetime risk of developing ovarian or breast cancer during harmful mutation of BRAC1 and BRAC2. In BRAC1, mutation increases the risk of contracting uterine, cervical, colon, and pancreatic cancer I women. However, mutation of BRAC1 in men causes testicular, pancreatic and prostate cancer. Individuals with family history of mutations especially BRAC1 and BRAC2 stand high chances of contracting tumors or cancer. This is because family members normally share same genes and environment.

From research conducted in individuals experiencing various mutations, it is evident that most mutations are hereditary (Vogel & Erlichman 4638). Gene Location In terms of molecular level, BRCA1 gene is located in a chromosome called 17q21. The process of identifying location of the gene on the chromosome entails the use of Simple Sequence Repeat (SSR) markers on chromosome 17, which constructed a genetic map that had very high resolution. ABI sequencing is responsible for capturing genotypes from the five SSR markers (Kadouri & Rotenberg 468) Difference between Mutation and Normal Genes Women experiencing mutation of BRCA1 gene tends to have high levels of oestrogen that stimulates uncontrolled growth of cells or breast tissue.

However, normal BRCA1 genes can control increase of breast cells and tissues in human body. In addition, normal genes have the capability of stabilizing DNA cells while preventing any uncontrolled growth of cells. Mutation genes do not have the ability of repairing any broken strands of DNA. Lastly, normal gene does not result in any