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

Prior to the SSW’s involvement, a lot of intervention had taken place to safeguard Lyndsey and promote her welfare. The SSW aimed to support Lyndsey with placement stability and to manage identified risks with the aid of the organisation tools including Framework for Assessment of Children in Need and their Families (FACNF), strengths and difficulties questionnaire, and drug and alcohol screening tools, to provide an analysis to understand Lyndsey’s developmental progress, capabilities, and obstacles and the foster carers’ ability to meet Lyndsey’s needs and to safeguard her from harm. It was possible to deliver desirable outcomes for Lyndsey and establish actions needed to protect her from the risk of significant harm.

A robust history of the case was accomplished via Lyndsey’s profile, information collected from other agencies, biological parents/foster carers, Looked After Child visits, and direct works, helped the SSW to construct a comprehensive, knowledge-based and evidence-based assessment of Lyndsey. The possibility of harm was appraised within FACNF domains that encourage the decision-making process to be grounded in evidence, rather than assumption (Cheminais, 2014).

The risk and resilience tool within the framework enables SSW to assimilate resilience into planning work and assessment. It enabled the SSW to consider both Lyndsey’s internal resilience factors, including family, and her external factors, such as peers/friends and school/community, and to plan intervention by exploring the context of her adverse experiences (Hood, 2018). Cleaver (2012) asserts that this process supports the management of risk, and helps consider interventions needed to lessen the threat to the Looked After Child, whilst increasing their protective factors and resilience. Although management of risk cannot eliminate it entirely, it may, however, reduce the likelihood of harm.

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