Missense mutation

been mutated, it produces an unreliable protein that predisposes the breast to cancer. Even though not everyone with BRCA1 or BRCA2 form cancer , people with these gene mutations should seek the best preventative treatments to eliminate their high risk of breast cancer because there is a distinct connection to people with this mutation that have also contracted cancer. Just one inherited, mutated gene greatly increases the risk of cancer. In the first article, Breast Cancer: Knocking out a…

644). Autosomal recessive disorder is defined as a mutation of two gene pairs on a chromosome and if the patient inherits only one copy of the allele, the disease will not develop but rather the child will be a carrier (Lewis et al., 2014, p. 193). Males and females are affected equally and heterozygotes…

Case Study #1 Spina Bifida Q1. What is the main pathology for this disease? Who primarily gets it and why? Spina bifida is considered a neural tubal defect (NTD) that affects the spine. (1) The neural tube is formed in the very early stages of pregnancy, specifically beginning in the third week.(2) The process of neural tubal closure is very complex and it can be disrupted.(2) When the backbone fails to form or close completely, spina bifida is the result.(1) This lack of closure can…

abnormality.” ( www.google.com) Abnormalities can be small as a single-base mutation in just one gene , or they can involve the addition or subtraction of entire chromosomes. Genetic disorders are quite rare but still do occur at times. Some of the disorders may or may not heritable, passed down from the parents’ genes. Genetics disorders may vary. Non-heritable disorders, not received from parents are caused by mutations and/or changes to the DNA. Genetic disorders occur in the germ line.…

A case on cancer cell By Shamik D. Majumdar What does cancer cell mean? Normal cells can repair themselves if any part gets damaged . This process is known as DNA repair. If the damage is too bad, they will self slaughter- known as apoptosis. (1) The molecules in cancer cells decide whether a cell should repair itself or not .EX: “a protein called p53 normally checks to see if the genes can be repaired or whether the cell should die”, so basically it…

Alopecia Areata Alopecia Areata is a common autoimmune disease that affects the hair growth. Although this disease is only passed through genetics, but it differs from a single-gene disease. Both parents have to contribute a certain number of specific genes in order for their child to get this disease. Because of this it is rarely passed from parent to child. Now for identical twins it is much different. There is a very low chance that both twins will get it. There is only a 55% for each…

Epigenetics in my life Michel Martinez Morales Miami Dade College Epigenetics In 1939, Waddington created a new word; epigenetics, as the link between two disciplines: developmental biology and genetics. Epigenetic studies how genes switch on and off during the development of the human being and through the lifespan, how gene activities segregate during cell division and how our progeny can inherit the consequences of our lifestyle (Holliday, 2006). To explain the concept of epigenetics, I…

Cri Du Chat Syndrome Section 1 The genetic disorder Cri Du Chat stems from the deletion of a portion the p arm of chromosome 5 in the affected person. This deletion is seemingly spontaneous in most affected individuals. “Approximately 90% of cases results from a sporadic, or randomly-occurring, de novo deletion” (6. pg. 606). This deletion may include a fraction to the entire loss of the p arm of the fifth chromosome as a whole. Taking into consideration the very spontaneous nature of…

Genetic testing is a common medical practice used by doctors and researches that identifies irregular mutations and/or defective genes that are susceptible to causing harmful genetic disorders. “One of a Kind” and “Advances in Kids’ Early Aging Disease” are two well-written articles that examine different genetic disorders and the threats they pose on children. Seth Mnookin, author of “One of a Kind,” tells the story of Bertrand Might, who at the time was the only known patient suffering from a…

while they can be passed down by the family, sometimes, and in most cases, children are born with a genetic trait that was never passed down, they possess a brand-new trait that no one in the family ever had, this is because genetic changes or mutations can and do occur. Therefore, a lot of the time people who have no trace of the gene, and believe themselves to not be at risk, have children who have these genes. So, while it can be familial, at the same time, this does not make everyone who…