Nonsense mutation

Fatal Familial Insomnia is passed on through generations. The chances of a parent passing on the genetic mutation is 50%, as stated by “rarediseases.info.nih.gov” updated in 2016. Since FFI is passed on throughout generations, if a parent has two children, one of them is almost guaranteed to get FFI, except for in rare cases. The mutation occurs in the 20th chromosome which leads to other problems in th body. FFI doesn’t lead straight to death, there are multiple things leading up to the final…

Mutations in the FGFR2 gene mapped to chromosome 10q25 and 10q26 causes Apert syndrome. Saritha, Sumangala, Supriya & Kumar (2013), explained that the protein causes prolonged signaling, which promote the premature fusion of bones and sutures of the skull, it also is responsible for fusion of hands and feet bones. Most cases of Apert syndrome occur from a new mutation in the gene. It can also occur in cases where there is no family…

Genetics is the study of genes, genetic variation, and hereditary in living organisms. In DNA A always pairs with T. DNA is the blueprint of life. Humans have 46 chromosomes. Our entire DNA sequence is is called a genome. The average gene is 10,000 to 15,000 bases long. DNA can be extracted from many different types of samples: blood, cheek cells, urine. Alleles are forms of of the same gene with small differences in their sequence of DNA bases. Genes are made up of DNA. There are about 20,000…

Associated Health Issues The prominent health issues that are associated with Joubert Syndrome are not often seen at birth. The issues associated with this disease are commonly seen as the child is developing. JS is involved with other related diseases “with phenotypes including cerebellar hypoplasia, retinal dystrophy and nephronophthisis (a cystic kidney disease)” (Investigating Embryonic Expression Patterns and Evolution, 2012). Cerebellar hypoplasia is defined as a neurological condition in…

research helps us understand what causes these disorders and also are starting to understand how to treat and even prevent genetic disease. Many individuals have undergone genetic testing to determinate if they carry the gene for certain genetic mutations. A high profile example of this is when Angelina Jolie had a double mastectomy after learning she carried the BRCA 1 gene hence decreasing here chance of developing cancer. There are ever increasing treatments for genetic disease which…

Perinatal counseling needs related to genetics are very important for patients and their families at risk of having a child with genetic disease of birth defect. Wherein, the need to describe the use of genomics to patients and families is paramount, they need to understand that genomics study genes, which is considered as the basic units of inheritance and because it influences all body part, an error one of the genes could lead to genetic disease (McCance & Huether, 2014). In the article “…

Influences of Epigenetics on Cancer Introduction Cancer before epigenetics History of cancer. Cancer is characterized by an out of control growth of tissues within one’s body. These cells are known as a mutated tissue cells, and these resulted in a new replication patterns. The word cancer was derived from the term carinas and carcinoma to describe non-ulcer forming or ulcer-forming tumors by the Greek physician Hippocrates (460-370 B.C). Studies over the centuries have been trying to determine…

At least once in your life you have met or seen someone that has Down syndrome. The reason I say this is because Down syndrome is very common. Down syndrome is a genetic disorder that some people have. Along with this genetic disorder it brings more than just looking different from others. In this report I am going to describe to you some important things that Down syndrome brings with it. First you need to have an understanding of what Down syndrome is. There are three types of Down syndrome…

Functions of protein TP53 TP53 has a general name called tumor suppressor protein p53. Tp53 has many names such as phosphoprotein p53, cellular tumor antigen p53, tumor suppressor p53, antigen NY-CO-13, or transformation-related protein 53 (TRP53). Also, TP53 has also been referred to as the guardian of the genome [19]. In 1979, scientists first observed the gene by using SDS-PAGE and found it has a size of about 53-kilodalton (kDa). The location of the TP53 gene is at chromosome 17, at…

Sickle cell anemia is disease of the blood caused by a mutation in the beta gene of hemoglobin. Healthy red blood cells are round and able to be moved easily through blood vessels. Sickled red blood cells take the shape of what looks like a crescent moon making travel through blood vessels much more difficult than those of healthy cells. These sickled cells may become stopped up at different points in the blood vessels, blocking other healthy cells to get through causing blood clots and…