Missense Mutation Essay

There are many known genetic diseases in the world. There are different types such as chromosomal and monogenic. Chromosomal disorders are when someone has too many or not as many chromosome as they are suppose to have (46 total chromosomes). Chromosomal disorders can also manifest when there are structural abnormalities. Monogenic disorders are an inherited medical condition caused by a DNA abnormalities. These diseases occur all throughout the world today. Depending on what region of the world you are in depends on what the most common ones are. Cystic Fibrosis has become the most common lethal genetic disease in the United States as of 1999. Although there are treatments available, there is not a known cure, and the effects remain burdensome

Many people are affected by genetic disorders every day. Abnormalities in one’s DNA are what cause a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case, they could be as severe as having an extra chromosome, or taking away a chromosome.

Jorde, L. B., Bamshad, M. J., White, R. L. and John C. Carey MD MPH Dr. (2006) Medical genetics updated edition for 2006 – 2007. 3rd edn. United States: Mosby.

For the genetic abnormality at the root of this disease, it is an X-linked inborn error of the glycosphingolipid metabolic pathway. Typically it is an X linked inheritance pattern that is neither recessive or dominant, and is x linked in this family history as well. The metabolic defect is in in the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A), which catalyzes the hydrolytic cleavage of the terminal galactose from globotriaosylceramide (Gb3). This results in accumulation of globotriaosylceramide within lysosomes in cells, in the vascular

From Cystic Fibrosis to Down’s Syndrome and Sickle Cell Anemia, there are tens of thousands of genetic disorders, with many more to be discovered. The fascinating thing about genetic disorders is that when we were born it’s a gamble whether or not we would come into this world with a genetic disorder. Although genetic disorders are quite rare and we take being born without one as granted, there are many out there that live with these disorders everyday. My research paper will focus on the specificalities of a few genetic disorders, the disorders presented in my paper are Marfan Syndrome, Hutchinson-Gilford Progeria, Cystic Fibrosis, and Sickle Cell Anemia. My paper will encompass important specifics

The authors state that the clinical diagnosis for the disease was confirmed by conduction a whole exome sequencing. With this sequencing they were able to detect multiple heterozygous mutations. These mutations were: a missense variation

Lysosomal storage diseases form due to the modification of lysosomal enzymes. The diseases can be metabolically inherited through gene mutation. In “Lysosomal Storage Disease”, Michael Kruer (2) claims that,

12. What criteria did researchers use when determining which mutations to include in the Tag-It test?

Michalski JC, Klein A. Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. Review. PubMed citation

The I79N, R278C, and F110I mutations were first identified and characterized by Watkins et al. (16). Families exhibiting HCM had their DNA sequenced and, using statistical analyses, polymorphisms were

There are three types of RNA: mRNA, tRNA, and rRNA. Messenger RNA (mRNA) is synthesized from a gene segment of DNA which ultimately contains the information on the primary sequence of amino acids in a protein to be synthesized. The genetic codes is translated is for mRNA, not DNA. The messenger RNA carries the code from the nucleus to the ribosome in the cytoplasm where protein synthesis occurs. It also carries the genetic information copied from the DNA in the form of a series of three-base code “words”, also known as triplets, each of which specifies a particular amino acid. Each nucleotide triplet, called a codon, can be “read” from the mRNA and translated into an amino acid to be incorporated into a protein being synthesized. Messenger RNA is a

Mucopolysaccharidosis Type II, also called Hunter Syndrome, is one of eleven types in a group of rare genetic lysosomal storage disorders called Muchopolysaccharidoses or MPS. (Lorena Elena Melit, 2015) Hunter Syndrome is named after Charles Hunter. He was a Canadian physician that, in 1917, found a rare disease in two brothers. (Lorena Elena Melit, 2015) Hunter Syndrome is the most common of the MPS disorders. (Lorena Elena Melit, 2015) In the U.S., on average, one in every 25,000 babies will be born with some form of MPS. (Health, 2016) These disorders only affect someone who inherits a defective gene from both parents. However, Hunter Syndrome or MPS II, is different form the others in the group. (Health, 2016) MPS II is inherited when the

Researchers used a translocation breakpoint on the X chromosome common to females with the disease to identify a region between near the pGK-1 locus where they believed the gene associated with Menkes to be located (Mercer et al, 1993). Polymerase chain reaction (PCR) was first used to screen a large YAC library for an appropriate YAC using a primer targeted to one side the pGK-locus. 2 YACs were found which spanned the first translocation breakpoint. Following that, fluorescent in-situ hybridisation was used to identify which of those YACs possessed DNA which spanned both the translocation breakpoint in question, as well as the sequential one. Internal and flanking probes were constructed from clones of the YAC in question and were used to make a restriction map (Mercer et al, 1993). A partial digest of EcoRI and subsequent Southern hybridisation revealed a DNA fragment which crossed the breakpoint, and proved to be the location of the gene responsible for Menkes. By matching known regions of DNA to the fragments of the digested clone via Southern and Northern blot analysis, a gel band was identified that was homologous to all Menkes patients, comfirming its identity. In sequencing this region, researchers observed that the gene (ATP7A) shared a highly conserved “heavy metal

In breast cancer, the tumor suppressor genes BRCA1 and BRCA2 germlin mutation is greatly present in women, it’s about 5% to 10% of all breast cancers. These genes normally involved in major cellular functions include double-strand break repair, checkpoint control, transcription regulation, and chromatin remodeling, and its inactivation may lead to spontaneous abnormalities in DNA, this might promote neoplastic development. Mutations of some genes (ATM and CHEK2) also affect BRCA pathways. The improved understanding of BRCA1 and 2 function of normal and cancer cell is related to DNA repair and therapeutic responses. Gene expression profiling is to identify distinct subtypes of breast cancer, which have

Genome-wide association studies (GWAS) are often correlated with personalized medicine. GWAS studies often involve sequencing the entire genome of patients suffering from a specific disease, to look for shared mutations within their genomes (Bush et al., 2012, p.1). These shared mutations are then investigated to assure their direct correlation with the disease, in which this mutation can be used to diagnose future patients by identifying the same mutation in their genome sequence (Bush et al, 2012, p. 3). Occasionally, it is identified that multiple mutations within the genome lead to the same disease (Bush et al., 2012, p.1). In cases where groups of individuals suffer from specific mutations in disease,