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{
"metadata": {
"model_name": "llama-3.3-70b-instruct",
"ntrain": 0,
"ntest": -1,
"timestamp": "20241212-090557"
},
"subject": "medical_genetics",
"category": "other (business, health, misc.)",
"correct_rate": 84.0,
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{
"question": "In a Robertsonian translocation fusion occurs at the:",
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{
"question": "Zinc finger proteins and helix-turn-helix proteins are",
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{
"question": "If the frequency of males affected with an X-linked recessive condition in a human population is .10 (one in ten), what will be the expected frequency of affected females?",
"model_answer": "A",
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{
"question": "In DNA adenine normally pairs with:",
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{
"question": "The pattern of inheritance shown by malignant hyperthermia (hyperpyrexia) is:",
"model_answer": "A.",
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{
"question": "Mapping of human chromosomes:",
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{
"question": "Intergenerational transmission to offspring can occur as a result of parental exposures to ______.",
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"question": "Asp235Phe in a molecular report indicates that:",
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"question": "The risk of abnormality in the child of a mother with untreated phenylketonuria is:",
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{
"question": "Exon skipping is associated with:",
"model_answer": "C.",
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{
"question": "Which of the following is not a chromosome instability syndrome?",
"model_answer": "A.",
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"question": "Normal adult haemoglobin (Hb A) consists of:",
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{
"question": "In a condition such as schizophrenia the recurrence risk will be greatest for which of the following relatives of an affected individual?",
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"question": "The mutation in sickle-cell disease consists of:",
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"question": "Which of the following is an example of monosomy?",
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"question": "QTL analysis is used to",
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"question": "What would be the frequency of AABBCC individuals from a mating of two AaBbCc individuals?",
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"question": "It is currently estimated that there are ______ human protein-coding genes although this estimate may be reduced over time.",
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"question": "With which of the following relatives is an individual most likely to share a common HLA haplotype?",
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{
"question": "Which of the following genes conveys susceptibility for polygenic Alzheimer disease?",
"model_answer": "D",
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{
"question": "The DiGeorge/Shprintzen syndrome is caused by a deletion in which chromosome?",
"model_answer": "B",
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{
"question": "X-chromosome inactivation",
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{
"question": "The pattern of inheritance shown by glucose-6-phosphate dehydrogenase (G6PD) deficiency is:",
"model_answer": "D",
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{
"question": "Homeobox sequences",
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{
"question": "Which of the following karyotypes is diagnostic of Down syndrome",
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{
"question": "Nature is more important for ______ differences, while nurture has greater influence on ______ differences.",
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"correct_answer": 0,
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{
"question": "Which of the following would result in Angelman syndrome?",
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{
"question": "Recombinant alpha-iduronidase is used for the treatment of which disease/syndrome?",
"model_answer": "C.",
"correct_answer": 2,
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{
"question": "Research from Moshe Szyf and colleagues has provided significant findings on the epigenetic influences of prenatal maternal stress. This work has been labelled ______.",
"model_answer": "A.",
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"question": "If both parents are affected with the same autosomal recessive disorder then the probability that each of their children will be affected equals ___.",
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"question": "The mutational mechanism in δβ-thalassaemia consists of:",
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{
"question": "Assuming Hardy-Weinberg equilibrium, the genoypte frequency of heterozygotes, if the frequency of the two alleles at the gene being studied are 0.6 and 0.4, will be:",
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{
"question": "Familial hypercholesterolaemia is caused by mutations in the gene which encodes what?",
"model_answer": "D",
"correct_answer": 3,
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{
"question": "A cross between two true breeding lines one with dark blue flowers and one with bright white flowers produces F1 offspring that are light blue. When the F1 progeny are selfed a 1:2:1 ratio of dark blue to light blue to white flowers is observed. What genetic phenomenon is consistent with these results?",
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{
"question": "The proportion of babies that have an abnormality identifiable at birth is _____.",
"model_answer": "C.",
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{
"question": "______ explained genetic disorders such as alkaptonuria and albinism.",
"model_answer": "A.",
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{
"question": "Which of the following conditions shows anticipation in paternal transmission?",
"model_answer": "D",
"correct_answer": 0,
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{
"question": "A homeotic mutation is one which",
"model_answer": "B",
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{
"question": "Which of the following is not a familial cancer syndrome",
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{
"question": "The epigenetic inheritance system has been described as ______ (Mayr and Provine, 1980).",
"model_answer": "B.",
"correct_answer": 1,
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{
"question": "Severe anaemia at birth is a feature of what?",
"model_answer": "A.",
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{
"question": "If an X-linked recessive disorder is in Hardy-Weinberg equilibrium and the incidence in males equals 1 in 100, then the expected incidence of affected homozygous females would be _______.",
"model_answer": "C",
"correct_answer": 2,
"is_correct": true,
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{
"question": "Tay-Sachs disease is caused by deficiency of _________________?",
"model_answer": "C.",
"correct_answer": 2,
"is_correct": true,
"response_time": 27.955784797668457
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{
"question": "A nonsense mutation involves:",
"model_answer": "D",
"correct_answer": 3,
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{
"question": "The polymerase chain reaction or PCR is a technique that",
"model_answer": "C",
"correct_answer": 2,
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{
"question": "The maternal serum level of alpha-fetoprotein (AFP) is lower than average in which situation?",
"model_answer": "A.",
"correct_answer": 0,
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{
"question": "______ has been described as the phenomenon by which one genotype can give rise to a range of different physiological or morphological states in response to different environmental conditions during development (West-Eberhard, 1989).",
"model_answer": "C.",
"correct_answer": 2,
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{
"question": "Arabidopsis is advantageous for plant genetic research because:",
"model_answer": "D",
"correct_answer": 3,
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{
"question": "The proportion of genes shared by first cousins is on average ___.",
"model_answer": "B.",
"correct_answer": 2,
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{
"question": "Which of the following is not a tumour suppressor gene?",
"model_answer": "D",
"correct_answer": 3,
"is_correct": true,
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{
"question": "Which of the following is a feature of X-linked dominant inheritance?",
"model_answer": "D",
"correct_answer": 3,
"is_correct": true,
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},
{
"question": "On average, how many fragments would a restriction enzyme which recognizes a specific 4 base sequence in DNA be expected to cleave a double-stranded bacteriophage with a genome size of 5,000 bp into?",
"model_answer": "C",
"correct_answer": 2,
"is_correct": true,
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{
"question": "Positional cloning refers to",
"model_answer": "D",
"correct_answer": 3,
"is_correct": true,
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{
"question": "Plasmid vectors for cloning",
"model_answer": "B",
"correct_answer": 1,
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{
"question": "Transcriptional activator proteins",
"model_answer": "A.",
"correct_answer": 0,
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{
"question": "Assuming that the level of glucose is low, a mutation in the repressor associated with the lac operon of E. coli which prevents binding of the repressor to lactose should result in: ",
"model_answer": "A.",
"correct_answer": 1,
"is_correct": false,
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{
"question": "In meiosis, recombination occurs in:",
"model_answer": "B.",
"correct_answer": 1,
"is_correct": true,
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{
"question": "Leber's hereditary optic atrophy is caused by a mutation in:",
"model_answer": "D.",
"correct_answer": 3,
"is_correct": true,
"response_time": 30.286713123321533
},
{
"question": "Regarding exons, which, if any, of the following statements is correct?",
"model_answer": "C",
"correct_answer": 0,
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"response_time": 30.28725814819336
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{
"question": "In humans, each cell normally contains ______ of chromosomes.",
"model_answer": "D",
"correct_answer": 1,
"is_correct": false,
"response_time": 30.287626028060913
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{
"question": "An increase in the inbreeding coefficient, F, is likely to result in:",
"model_answer": "A.",
"correct_answer": 0,
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{
"question": "Which of the following findings on prenatal ultrasound examination would not raise suspicion of a chromosome abnormality?",
"model_answer": "D",
"correct_answer": 3,
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{
"question": "The likelihood of an individual in a population carrying two specific alleles of a human DNA marker, each of which has a frequency of 0.2, will be:",
"model_answer": "B",
"correct_answer": 2,
"is_correct": false,
"response_time": 26.539032697677612
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{
"question": "An Hfr strain of E. coli contains:",
"model_answer": "C",
"correct_answer": 2,
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{
"question": "Male to male transmission is a key feature of which pattern of inheritance?",
"model_answer": "D",
"correct_answer": 0,
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{
"question": "Simple tandem repeat polymorphisms in humans are most useful for",
"model_answer": "A.",
"correct_answer": 0,
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{
"question": "Which of the following disorders is not suitable for population carrier screening?",
"model_answer": "B.",
"correct_answer": 1,
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{
"question": "Which of the following disorders does not show X-linked inheritance?",
"model_answer": "B",
"correct_answer": 1,
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{
"question": "The most common chromosome abnormality in first trimester spontaneous miscarriages is:",
"model_answer": "A.",
"correct_answer": 0,
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{
"question": "Which of the following karyotypes is not compatible with survival to birth?",
"model_answer": "D",
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{
"question": "Male breast cancer is associated with mutations in ___.",
"model_answer": "B.",
"correct_answer": 1,
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{
"question": "Pseudocholinesterase deficiency is associated with increased sensitivity to what?",
"model_answer": "D",
"correct_answer": 3,
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{
"question": "The most common cystic fibrosis mutation consists of:",
"model_answer": "A.",
"correct_answer": 0,
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{
"question": "The normal human chromosome diploid number is:",
"model_answer": "C.",
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{
"question": "Advantages of using adenoviruses for gene therapy include:",
"model_answer": "B.",
"correct_answer": 1,
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{
"question": "Which of the following statements about Hirschsprung disease is incorrect?",
"model_answer": "B.",
"correct_answer": 1,
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{
"question": "Which of the following conditions is caused by a trinucleotide (triplet) repeat expansion?",
"model_answer": "C",
"correct_answer": 2,
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{
"question": "Which of the following causes female pseudohermaphroditism?",
"model_answer": "C",
"correct_answer": 2,
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{
"question": "Which component of transcribed RNA in eukaryotes is present in the initial transcript but is removed before translation occurs?",
"model_answer": "A.",
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"question": "Which of the following is not a recognized complication of cystic fibrosis?",
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"question": "Which of the following diagnostic techniques is of no value for the diagnosis of neural tube defects?",
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{
"question": "Which of the following conditions is a peroxisomal disorder?",
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{
"question": "Marked microsatellite instability is a feature of:",
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{
"question": "The common mutation in α-thalassaemia consists of:",
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{
"question": "A baby born with pulmonary hypoplasia secondary to oligohydramnios caused by renal agenesis would be classified as having:",
"model_answer": "C.",
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"question": "The ______ is the set of observable characteristics and is the sum of genetic and environmental effects.",
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"question": "Which of the following trisomy karyotypes has the mildest effect on human development?",
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"question": "Mutations that cause achondroplasia exert an effect which can be classified as:",
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"question": "The presence of two or more cell lines from different zygotes in a single individual is known as:",
"model_answer": "D.",
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"question": "The risk for miscarriage associated with amniocentesis is approximately ____.",
"model_answer": "C",
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{
"question": "Autozygosity mapping is used to map disorders that show which pattern of inheritance?",
"model_answer": "B.",
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{
"question": "Consanguinity shows a strong association with which pattern of inheritance?",
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{
"question": "Most new mutations appear to be",
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{
"question": "Twin studies in humans are useful because",
"model_answer": "A.",
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"question": "Complete the following sentence. The Philadelphia chromosome:",
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{
"question": "Enzyme assay can be used to identify carriers of:",
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{
"question": "A high blood ammonia level occurs in:",
"model_answer": "C.",
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{
"question": "In genome-wide association studies, known SNPs explain ______ of the variation in body mass index despite the evidence of greater than 50% heritability from twin and family studies.",
"model_answer": "D",
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{
"question": "Differential distribution of substances in the egg most typically results in:",
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{
"question": "Which of the following conditions is not caused by a mutation in FGFR3?",
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]
}