1. A 7-year-old boy presents with recurrent bacterial and fungal infections. He has a history of abscess formation in multiple organs. His mother is asymptomatic, but her brother had similar infections and died as a child. Genetic analysis reveals a mutation in the gene encoding NADPH oxidase. What is the most likely mode of inheritance? […]
Single Gene Inheritance- Multiple-Choice Questions Read More »
Question 1: What is the definition of a single-gene disorder? Answer: Single-gene disorders are genetic conditions caused by mutations in a single gene. They can follow autosomal dominant, autosomal recessive, or X-linked inheritance patterns. Question 2: Name two examples of autosomal dominant single-gene disorders. Answer: Examples include Huntington’s disease and Marfan syndrome. Question 3: What
Table 1: Autosomal Recessive (AR) Disorders Mnemonic: “Can People Stop Talking While Cooking Toast And Fries?” Letter Disorder Clinical features C Cystic Fibrosis (CF) Thick mucus, lung infections, salty sweat. P Phenylketonuria (PKU) Intellectual disability, musty odor. S Sickle Cell Anemia Pain crises, anemia, malaria resistance. T Tay-Sachs Disease Neurodegeneration, cherry-red macula. W Wilson’s Disease
Table 1- Basic Genetic Concepts Term Definition Example/Notes Gene A segment of DNA that encodes for a protein or RNA. BRCA1 gene for DNA repair. Allele A variant form of a gene. Dominant (A) or recessive (a). Locus The specific physical location of a gene or DNA sequence on a chromosome. The CFTR gene is
Key Terminologies and Concepts in Genetics For Easy Reference Read More »
