Deletion

Cri du chat Syndrome Cri du chat syndrome is an uncommon genetic condition that is caused by missing genetic material on chromosome 5. Specifically a part on the small arm (p) of chromosome 5 is absent. The disorder occurs in 1 in 20,000 to 50,000 live births according to the US National Library of Medicine. What causes this to happen is currently unknown. Cri du chat syndrome was first described in 1963 by French geneticist Jérôme Lejeune. He noticed that several of his patients…

Lmna Mutations and HGPS Collins and his team of researchers decided to screen 23 affected individuals for mutations of the Lmna gene. They chose the Lmna gene due to its involvement in a wide spectrum of heritable disorders including Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, and Charcot-Marie-Tooth disease (“Lmna”). The decision to screen the Lmna gene definitely paid off, as three different mutations were discovered. The mutations…

On Monday, November 9, 2015 I was allowed to observe a day with an elementary school Speech-Language Pathologist. Her name is Amy Hicks, MS CCC SLP. Amy can be reached by mail at 2750 S. Corral St., Humboldt, AZ 86329. Her contact phone number is (480) 518-6993. I felt that Amy would be a great person to observe. She grew up with a mother who was a SLP, and she spent time at NAU while earning her degree. I arrived at 8am to begin our day, and did not leave until the end of Amy’s day,…

Research Experience Metabolic Integration in Salmonella enterica: My first research experience began with a summer internship in the Bacteriology department at the University of Wisconsin, Madison, investigating the compensatory mechanisms involved in metabolic integration. The overarching goal was to identify the changes and alternative pathways required to sustain life in a Salmonella enterica strain whose thiamine (vitamin B1) biosynthetic gene, thiH, had been replaced by an equivalent…

Disability Paper RING 14 CHROMOSOME SYNDROMES 14 What is RING14 syndrome? RING 14 indicates an aberration with respect to chromosome 14, which takes the form of a ring as soon as its two extremities, the long arm and the short arm, fuse together. The fusion occurs through two ruptured events, one at the extremity of the short arm and the other at the end of the…

of exon 15. A little over 60% of mutations also happen within a mutation cluster region from amino acid 1286 to 1513. Some other common mutations are a 34-kb deletion of the APC promoter 1B. Mutations in this cluster result in the deletion of Axin binding sites in the 20AA (only one binding site is saved). Mutations also cause the deletion of β-catenin regulation, it leads to chromosome instability, and also causes altered cell migration. Figure 7 represents a few other mutations common to APC.…

1. One of the sets of people that have allelic variation are Long Term Survivors who are homozygous for a 32 base-pair deletion in their genome. The deletion is for CCR5, a chemokine receptor which functions as a HIV co-receptor. Due to the deletion of CCR5, the ability of the virus to fuse with the host cells is impaired and those people can be exposed however they will not become infected. Another subgroup of Long Term Survivors are referred to as elite controllers. These individuals are…

disease is associated with other diseases such as pulmonic stenosis and tetralogy of Fallot. “In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille…

client’s productions. Furthermore, this process should be suppressed by 3 years, 6 months. For the client’s age of 6 years, 2 months, it would be important to target this process in therapy. The clinician would also want to target the client’s use of deletion of final consonants. Although it is not considered an active process by this analysis’s standards, there are enough instances of this process in the client’s productions that could influence her intelligibility. According to the…

are large deletions, large duplications and point mutations with other small changes. When large deletions occur, pieces of the DNA are lost. This mutation causes DMD 60-70% of the time. Large duplications causes parts of the DNA to be copied. This causes DMD 10% of the time. Point mutations are the last types of mutations to occur and cause DMD 15-30% of cases. Point mutations are adjustments in the DNA sequence which are caused by a change in the nucleotide by an insertion or a deletion. The…