SGrade/USMLE Step 1/Genetics & Molecular Biology
Genetics & Molecular Biology Practice Questions
Mendelian patterns, trinucleotide repeats, imprinting, translocations, Hardy–Weinberg, lab techniques, pharmacogenomics, and hereditary cancer syndromes.
Free to start · No credit card
Sample questions
3 of 25 questions shown. Sign in to practise all 25 with full explanations.
A 3-year-old child presents with a distinctive high-pitched, cat-like cry, microcephaly, severe intellectual disability, and widely spaced eyes. Physical examination also reveals a small chin and low-set ears. Genetic testing is ordered to confirm the suspected diagnosis. Which of the following molecular diagnostic techniques is most appropriate to detect the underlying chromosomal abnormality in this patient?
Examiner's Design Intent
To assess the student's ability to correlate a specific clinical presentation of a genetic syndrome with the most appropriate molecular diagnostic technique for identifying the underlying chromosomal abnormality.
A 4-year-old boy presents with a history of recurrent respiratory infections, steatorrhea, and poor weight gain despite a good appetite. Physical examination reveals clubbing of the digits. A sweat chloride test is performed and yields a positive result. Genetic testing is pending. Which of the following is the most likely inheritance pattern for this patient's condition?
Examiner's Design Intent
To assess the student's ability to correlate a classic clinical presentation of a common genetic disorder (Cystic Fibrosis) with its correct Mendelian inheritance pattern.
In a closed, randomly mating population, the incidence of an autosomal recessive genetic disorder is observed to be 1 in 10,000 live births. Assuming the population is in Hardy-Weinberg equilibrium, and there are no new mutations or selection pressures affecting this gene. What is the estimated frequency of the recessive allele in this population?
Examiner's Design Intent
To assess the student's ability to apply the Hardy-Weinberg equilibrium principle to calculate allele frequency from the incidence of an autosomal recessive disorder, a fundamental concept in population genetics and its …
+ 22 more Genetics & Molecular Biology questions in this set
Unlock all 25 questions free →Master Genetics & Molecular Biology. Pass Step 1.
See your predicted score update after every question. Free to start, no card needed.
Start free →