Genetics

 

This week you have differentiated autosomal dominant and recessive patterns of inheritance of diseases. The assignment this week is designed to elicit a practical application of this information. For this assignment you will analyze a hypothetical family that has an unusually high occurrence of a hypothetical disease known as “X”. The disease is inherited and follows this pattern: homozygous dominant (XX) and heterozygous (Xx) genotypes provide healthy phenotypes while homozygous recessive (xx) provides the disease phenotype.

Occurrence of the disease in the family is as follows. The grandchildren have all had submitted to DNA sequencing to provide their genotypes. We only know the presence or absence of the disease for the grandparents’ and parents’ generation:

Grandfather (healthy) and Grandmother (disease) had 6 children

Child 1 (Male) died at 12

Child 2 (Female) died 29 from the disease.

Child 3 (Male with disease) married and produced two children

Female Grandchild (Heterozygous)

Female Grandchild (Heterozygous)

Child 4 (Female with disease) married and produced two children

Male Grandchild (Homozygous Dominant)

Female Grandchild (Heterozygous)

Child 5 (Stillborn at 21 weeks)

Child 6 (Female with disease) married and produced two children

Female Grandchild (Homozygous Recessive)

Male Grandchild (Heterozygous)

 

Assignment Expectations:

First, determine if disease “X” follows an autosomal dominant or recessive pattern of inheritance. Second, using any means (including hand drawn if necessary), construct a pedigree of the hypothetical family listed above. Provide as many geneotypes as possible for each member of the family. In many cases you will have to solve the parents genotype based on offspring. You may not be able to determine the genotype of all based on the information provided. For those instances list the possible genotypes.

Sample Solution

The company specialises in providing systems to their customers so they are able to monitor data quality retrieved using the company’s software products. The company provides remote telemetry units and secure SCADA systems and business optimisation software as a complete end-to-end automation and optimisation solution (Servelec Technologies, 2018). The company ensures that their customers are receiving effective solutions gaining efficiency savings from data received from the company’s systems (Servelec Technologies, 2018). A Newspaper journal called Telecommworldwire emphasises that the company is making a name for themselves after winning a major contract with one of UK’s largest Airport. In February 2000, the Airport awarded an IT contract worth a large amount of money to Servelec Technologies to deliver IT upgrades to current airport systems. The upgrades that have been done on the unix servers and workstations at the airport, the customers were able to retrieve data from this and monitor the systems (Telecomworldwire, 2000). This is a good indication that the company is providing quality products and services to their customers, because the customers are benefiting from this having up-to-date systems and upgrades also allowing them to retrieve the data required from their systems.

There are many systems that have been developed which deliver end-to-end data acquisition, management, presentation and optimisation of the data (Servelec Group, 2018). Once the data is received from the RTU and SCADA they are provided to the customers across the global infrastructure. This includes water, rail, energy, navigation, and broadcasting. Servelec Technologies provide RTUS and telemetry products that have been connected from the software created through a global distribution (Servelec Group, 2018). Howell et al, (2018) discuss that ICT in water industries are important as they have a smart sensing optimisation and a decision support. The system is therefore able to retrieve data from clean and waste water networks as well as assets making sure it is efficient, has sustainability and in a reliable manner. Howell et al. (2018) emphasise the importance of having a smart water network which focuses on devices like pumps, valves, reservoirs where clean water measured through the network. This shows that it is important for water industries to have technology so that it helps the industry to calculate real-time data therefore this ensures the process to be more efficient for waste water that becomes drinking water. Furthermore, the company are utilising Howell et al’s theory as he emphasis that a smart water network should be used to communicate with water instrumental equipment to the SCADA server (Howell et al, 2018).

 

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