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Genetic disorder case study

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Added: 23.04.2021
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Knowledge and skills learned in the classroom are not transferred to their everyday life. This activity uses the unit of genetics to cover such concern. Genetics is not only for the scientists, it concerns us all. As knowledge and technology grow more diverse, diagnostic tests and treatment of illnesses are increasingly available in extending the longevity and quality of life. It is important for us to be knowledgeable and to be effective decision makers, and our understanding of both classical and modern genetics gives us the means to do so.
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Genetic Disorders Case Study

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Objectives: Alcoholism and affective disorders are both strongly comorbid and heritable. We have investigated the genetic comorbidity between bipolar affective disorder and alcoholism. Methods: A genome-wide allelic association study of patients from the University College London bipolar disorder case-control sample and ancestrally matched supernormal controls. One hundred forty-three of the bipolar patients fulfilled the Research Diagnostic Criteria diagnosis of alcoholism. A total of single nucleotide polymorphisms SNPs were genotyped.
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Using genomics to solve a 20-year case study

After 20 years, a patient's family received an answer to a decades-long genetic mystery. Their daughter had two rare disorders, Angelman syndrome and Pscc deficiency, which was detected after researchers found out she had uniparental disomy, two copies of chromosome 15 from one parent and none from another. By using a variety of genetic tools, including whole-exome sequencing, microarray analyses and in-vitro modeling for gene splicing, the researchers were able to confirm this patient had uniparental disomy, a recessive genetic condition. They learned that after she received two impaired copies of chromosome 15 from her father, this woman developed a hormonal problem that led to adrenal insufficiency and sex reversal. This explained why she physically presented as a female, despite having testes and a Y-chromosome.
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Complementarity is the most common type of gene interactions. It is the situation when the final product arises only if there is at least one dominant allele in each of two complementary genes. Single dominant allele in one or second gene is not expressed in phenotype by any specific trait.
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