Missense mutation

Lethal alleles Lethal alleles cause death of the organism that transports them, normally they are the result of genetic mutations in the genes which are vital to growth and development. Lethal alleles can be recessive, dominant or conditional depending on the genes involved. Examples of the mutations caused by the lethal alleles are cystic fibrosis and sickle cell anaemia. Incomplete dominance Incomplete dominance is a part of inheritance, when one allele for a precise trait isn’t completely…

different MECP2 mutation and can have some developmental delay. Rett Syndrome has an unknown etiology, perhaps because of the lack of bulk investigations available. According to Pellock, there is a mutation on the X chromosome which affects the methyl-CpG-binding protein 2 (MECP2). There are also other mutations that can cause atypical or congenial Rett Syndrome such as mutations in the CDKL5 and FOXG1 genes. These cases may be caused by partial gene deletions, different mutations of MECP2…

This experiment is a hypothetical representation, modelling the effects of colour mutations in “prey” and vision mutations in “predators”, and their role in natural selection. This means that different materials in this experiment represent real-life organisms and environments. The sand-coloured background represents a sand environment, while the green background represents a grass environment. The individual conducting the experiment is acting as the “predator” (bird) and the tweezers used by…

The four forces of evolution include mutation, gene flow, genetic drift, and natural selection. Mutation occurs when the base pairs in DNA change which leads to different codons being read during translation. Most mutations create codons for the same amino acid that the normal codon would have made but sometimes a different amino acid is made and that leads to changes in the organism's phenotype. Gene flow happens when two different populations come together and reproduce with each other. The…

syndrome is a Primary human immunodeficiency disease which is caused by genetic predisposition in an autosomal recessive pattern, where this describes any chromosome other than sex chromosomes where both pairs of the gene in each cell have underwent mutation. This disorder itself is a rare one, where about 200 cases of the condition have been reported worldwide. The parents of the person with this type of condition, autosomal recessive, carry one copy of the mutated gene, but normally don’t show…

Trisomy X Trisomy x syndrome, also known as triple x and 47xxx, is characterized by the presence of an extra x chromosome in each cell of a female. Three x chromosomes are present, rather than a normal pair in the nuclei of body cells. The first published report of a women with triple x syndrome was Patricia A. Jacobs at Western General Hospital in Edinburg, Scotland, in 1959. The condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple x syndrome are born in the united…

gender of the child. The flawed gene passed on by the mother does not have to date back to ancestral connections, either because the family might have not known about the disease and never had a son that inherited it, or the child had a new genetic mutation in the mother’s eggs ("Diseases - DMD”). Therefore, the reason why young men are often diagnosed with this disease is according to their…

Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. As a consequence, bone modeling and remodeling are impaired. The defect in bone turnover characteristically results in skeletal fragility despite increased bone mass, and it may also cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Researchers have described several major types of osteopetrosis, which are usually distinguished by their…

After looking at the results, there seemed to be a match between DNA found at the crime scene and DNA from one of the suspects. DNA from the crime scene with enzyme one matched closely with DNA from suspect two that was with enzyme one. Along with that match, the DNA from the crime scene with enzyme two was matched closely with DNA from suspect two with enzyme two. Because there were close matches to the DNA found at the crime scene, does not necessarily mean that the suspect is guilty. There…

before transplantation. This repair introduces DNA and RNA into stem cells to correct the mutation. A clinical trial, currently in progress, is the modification of the β-globulin gene with an anti-sickling gene in the laboratory. This gene is then transplanted back into the patient’s bone marrow. If successful the patient’s bone marrow will produce normal hemoglobin. To correct the inherited genetic mutation, there are currently studies utilizing the use of induced pluripotent stem cells…