Genetiics | Our Biochemistry- Namrata Chhabra

Genetics- Chromosomal disorders, Mitochondrial inheritance, and Population Genetics

1. A scientist is analyzing a pedigree chart to understand the inheritance pattern of a particular disease. Which of the following features in the pedigree chart strongly suggests mitochondrial inheritance? A. Affected males transmit the disease to all their offspring B. The disease appears to skip generations. C. Affected females transmit the disease to all […]

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Single Gene Inheritance- Multiple-Choice Questions

Genetiics / Namrata Chhabra

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?

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Genetics- Practice question series- Set 1- Single gene disorders (short-answer questions)

Genetiics, Short-answer Questions, USMLE styled question bank / Namrata Chhabra

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

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Comprehensive Guide to Single-Gene Disorders: Categorized by Inheritance Patterns with Easy Mnemonics

Genetiics, Quick Revision Series / Namrata Chhabra

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

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Key Terminologies and Concepts in Genetics For Easy Reference

Genetiics, Quick Revision Series / Namrata Chhabra

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

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