{
  "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,
  "evaluation_results": [
    {
      "question": "In a Robertsonian translocation fusion occurs at the:",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 28.26958990097046
    },
    {
      "question": "Zinc finger proteins and helix-turn-helix proteins are",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 28.26995611190796
    },
    {
      "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",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 28.270293951034546
    },
    {
      "question": "In DNA adenine normally pairs with:",
      "model_answer": "B.",
      "correct_answer": 2,
      "is_correct": false,
      "response_time": 28.27064800262451
    },
    {
      "question": "The pattern of inheritance shown by malignant hyperthermia (hyperpyrexia) is:",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 28.27099299430847
    },
    {
      "question": "Mapping of human chromosomes:",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 28.271408081054688
    },
    {
      "question": "Intergenerational transmission to offspring can occur as a result of parental exposures to ______.",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 28.27189302444458
    },
    {
      "question": "Asp235Phe in a molecular report indicates that:",
      "model_answer": "A.",
      "correct_answer": 2,
      "is_correct": false,
      "response_time": 28.27225685119629
    },
    {
      "question": "The risk of abnormality in the child of a mother with untreated phenylketonuria is:",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 28.272605180740356
    },
    {
      "question": "Exon skipping is associated with:",
      "model_answer": "C.",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 28.27303695678711
    },
    {
      "question": "Which of the following is not a chromosome instability syndrome?",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 26.05060386657715
    },
    {
      "question": "Normal adult haemoglobin (Hb A) consists of:",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 26.05187702178955
    },
    {
      "question": "In a condition such as schizophrenia the recurrence risk will be greatest for which of the following relatives of an affected individual?",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 26.05224895477295
    },
    {
      "question": "The mutation in sickle-cell disease consists of:",
      "model_answer": "D.",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 26.0526340007782
    },
    {
      "question": "Which of the following is an example of monosomy?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 26.05321502685547
    },
    {
      "question": "QTL analysis is used to",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 26.053910970687866
    },
    {
      "question": "What would be the frequency of AABBCC individuals from a mating of two AaBbCc individuals?",
      "model_answer": "D",
      "correct_answer": 0,
      "is_correct": false,
      "response_time": 26.05519413948059
    },
    {
      "question": "It is currently estimated that there are ______ human protein-coding genes although this estimate may be reduced over time.",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 26.055561065673828
    },
    {
      "question": "With which of the following relatives is an individual most likely to share a common HLA haplotype?",
      "model_answer": "C.",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 26.056087017059326
    },
    {
      "question": "Which of the following genes conveys susceptibility for polygenic Alzheimer disease?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 26.056427001953125
    },
    {
      "question": "The DiGeorge/Shprintzen syndrome is caused by a deletion in which chromosome?",
      "model_answer": "B",
      "correct_answer": 3,
      "is_correct": false,
      "response_time": 28.0038321018219
    },
    {
      "question": "X-chromosome inactivation",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 28.003955125808716
    },
    {
      "question": "The pattern of inheritance shown by glucose-6-phosphate dehydrogenase (G6PD) deficiency is:",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 28.004058122634888
    },
    {
      "question": "Homeobox sequences",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 28.00415325164795
    },
    {
      "question": "Which of the following karyotypes is diagnostic of Down syndrome",
      "model_answer": "A",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 28.00424599647522
    },
    {
      "question": "Nature is more important for ______ differences, while nurture has greater influence on ______ differences.",
      "model_answer": "B",
      "correct_answer": 0,
      "is_correct": false,
      "response_time": 28.00433897972107
    },
    {
      "question": "Which of the following would result in Angelman syndrome?",
      "model_answer": "A.",
      "correct_answer": 1,
      "is_correct": false,
      "response_time": 28.00443124771118
    },
    {
      "question": "Recombinant alpha-iduronidase is used for the treatment of which disease/syndrome?",
      "model_answer": "C.",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 28.004521131515503
    },
    {
      "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.",
      "correct_answer": 1,
      "is_correct": false,
      "response_time": 28.004610061645508
    },
    {
      "question": "If both parents are affected with the same autosomal recessive disorder then the probability that each of their children will be affected equals ___.",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 28.004700899124146
    },
    {
      "question": "The mutational mechanism in δβ-thalassaemia consists of:",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 26.011904001235962
    },
    {
      "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:",
      "model_answer": "C",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 26.012013912200928
    },
    {
      "question": "Familial hypercholesterolaemia is caused by mutations in the gene which encodes what?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 26.01210594177246
    },
    {
      "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?",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 26.012194871902466
    },
    {
      "question": "The proportion of babies that have an abnormality identifiable at birth is _____.",
      "model_answer": "C.",
      "correct_answer": 1,
      "is_correct": false,
      "response_time": 26.012286901474
    },
    {
      "question": "______ explained genetic disorders such as alkaptonuria and albinism.",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 26.012378931045532
    },
    {
      "question": "Which of the following conditions shows anticipation in paternal transmission?",
      "model_answer": "D",
      "correct_answer": 0,
      "is_correct": false,
      "response_time": 26.01247000694275
    },
    {
      "question": "A homeotic mutation is one which",
      "model_answer": "B",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 26.01270604133606
    },
    {
      "question": "Which of the following is not a familial cancer syndrome",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 26.012808084487915
    },
    {
      "question": "The epigenetic inheritance system has been described as ______ (Mayr and Provine, 1980).",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 26.012898921966553
    },
    {
      "question": "Severe anaemia at birth is a feature of what?",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 27.954950094223022
    },
    {
      "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,
      "response_time": 27.95532202720642
    },
    {
      "question": "Tay-Sachs disease is caused by deficiency of _________________?",
      "model_answer": "C.",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 27.955784797668457
    },
    {
      "question": "A nonsense mutation involves:",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 27.956156730651855
    },
    {
      "question": "The polymerase chain reaction or PCR is a technique that",
      "model_answer": "C",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 27.959336757659912
    },
    {
      "question": "The maternal serum level of alpha-fetoprotein (AFP) is lower than average in which situation?",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 27.960392951965332
    },
    {
      "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,
      "is_correct": true,
      "response_time": 27.960794925689697
    },
    {
      "question": "Arabidopsis is advantageous for plant genetic research because:",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 27.961212873458862
    },
    {
      "question": "The proportion of genes shared by first cousins is on average ___.",
      "model_answer": "B.",
      "correct_answer": 2,
      "is_correct": false,
      "response_time": 27.961553812026978
    },
    {
      "question": "Which of the following is not a tumour suppressor gene?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 27.961896896362305
    },
    {
      "question": "Which of the following is a feature of X-linked dominant inheritance?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 30.28065013885498
    },
    {
      "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,
      "response_time": 30.2810161113739
    },
    {
      "question": "Positional cloning refers to",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 30.2813560962677
    },
    {
      "question": "Plasmid vectors for cloning",
      "model_answer": "B",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 30.281705141067505
    },
    {
      "question": "Transcriptional activator proteins",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 30.28204917907715
    },
    {
      "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,
      "response_time": 30.282816171646118
    },
    {
      "question": "In meiosis, recombination occurs in:",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 30.283633947372437
    },
    {
      "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,
      "is_correct": false,
      "response_time": 30.28725814819336
    },
    {
      "question": "In humans, each cell normally contains ______ of chromosomes.",
      "model_answer": "D",
      "correct_answer": 1,
      "is_correct": false,
      "response_time": 30.287626028060913
    },
    {
      "question": "An increase in the inbreeding coefficient, F, is likely to result in:",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 26.53883695602417
    },
    {
      "question": "Which of the following findings on prenatal ultrasound examination would not raise suspicion of a chromosome abnormality?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 26.538944005966187
    },
    {
      "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
    },
    {
      "question": "An Hfr strain of E. coli contains:",
      "model_answer": "C",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 26.53912091255188
    },
    {
      "question": "Male to male transmission is a key feature of which pattern of inheritance?",
      "model_answer": "D",
      "correct_answer": 0,
      "is_correct": false,
      "response_time": 26.539212942123413
    },
    {
      "question": "Simple tandem repeat polymorphisms in humans are most useful for",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 26.539304971694946
    },
    {
      "question": "Which of the following disorders is not suitable for population carrier screening?",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 26.53940200805664
    },
    {
      "question": "Which of the following disorders does not show X-linked inheritance?",
      "model_answer": "B",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 26.539493799209595
    },
    {
      "question": "The most common chromosome abnormality in first trimester spontaneous miscarriages is:",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 26.539583921432495
    },
    {
      "question": "Which of the following karyotypes is not compatible with survival to birth?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 26.539671897888184
    },
    {
      "question": "Male breast cancer is associated with mutations in ___.",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 25.058475017547607
    },
    {
      "question": "Pseudocholinesterase deficiency is associated with increased sensitivity to what?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 25.058922290802002
    },
    {
      "question": "The most common cystic fibrosis mutation consists of:",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 25.059545040130615
    },
    {
      "question": "The normal human chromosome diploid number is:",
      "model_answer": "C.",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 25.060266256332397
    },
    {
      "question": "Advantages of using adenoviruses for gene therapy include:",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 25.06434392929077
    },
    {
      "question": "Which of the following statements about Hirschsprung disease is incorrect?",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 25.066063165664673
    },
    {
      "question": "Which of the following conditions is caused by a trinucleotide (triplet) repeat expansion?",
      "model_answer": "C",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 25.066773176193237
    },
    {
      "question": "Which of the following causes female pseudohermaphroditism?",
      "model_answer": "C",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 25.06712317466736
    },
    {
      "question": "Which component of transcribed RNA in eukaryotes is present in the initial transcript but is removed before translation occurs?",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 25.06747007369995
    },
    {
      "question": "Which of the following is not a recognized complication of cystic fibrosis?",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 25.067816257476807
    },
    {
      "question": "Which of the following diagnostic techniques is of no value for the diagnosis of neural tube defects?",
      "model_answer": "B",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 25.435523986816406
    },
    {
      "question": "Which of the following conditions is a peroxisomal disorder?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 25.435914039611816
    },
    {
      "question": "Marked microsatellite instability is a feature of:",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 25.436400890350342
    },
    {
      "question": "The common mutation in α-thalassaemia consists of:",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 25.436995029449463
    },
    {
      "question": "A baby born with pulmonary hypoplasia secondary to oligohydramnios caused by renal agenesis would be classified as having:",
      "model_answer": "C.",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 25.43739914894104
    },
    {
      "question": "The ______ is the set of observable characteristics and is the sum of genetic and environmental effects.",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 25.43793296813965
    },
    {
      "question": "Which of the following trisomy karyotypes has the mildest effect on human development?",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 25.438348054885864
    },
    {
      "question": "Mutations that cause achondroplasia exert an effect which can be classified as:",
      "model_answer": "A.",
      "correct_answer": 1,
      "is_correct": false,
      "response_time": 25.439374923706055
    },
    {
      "question": "The presence of two or more cell lines from different zygotes in a single individual is known as:",
      "model_answer": "D.",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 25.439733028411865
    },
    {
      "question": "The risk for miscarriage associated with amniocentesis is approximately ____.",
      "model_answer": "C",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 25.440208911895752
    },
    {
      "question": "Autozygosity mapping is used to map disorders that show which pattern of inheritance?",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 27.292155027389526
    },
    {
      "question": "Consanguinity shows a strong association with which pattern of inheritance?",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 27.29309105873108
    },
    {
      "question": "Most new mutations appear to be",
      "model_answer": "B",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 27.29381012916565
    },
    {
      "question": "Twin studies in humans are useful because",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 27.29487419128418
    },
    {
      "question": "Complete the following sentence. The Philadelphia chromosome:",
      "model_answer": "B.",
      "correct_answer": 1,
      "is_correct": true,
      "response_time": 27.29526400566101
    },
    {
      "question": "Enzyme assay can be used to identify carriers of:",
      "model_answer": "D.",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 27.295623064041138
    },
    {
      "question": "A high blood ammonia level occurs in:",
      "model_answer": "C.",
      "correct_answer": 2,
      "is_correct": true,
      "response_time": 27.29607391357422
    },
    {
      "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",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 27.296532154083252
    },
    {
      "question": "Differential distribution of substances in the egg most typically results in:",
      "model_answer": "A.",
      "correct_answer": 0,
      "is_correct": true,
      "response_time": 27.296911001205444
    },
    {
      "question": "Which of the following conditions is not caused by a mutation in FGFR3?",
      "model_answer": "D",
      "correct_answer": 3,
      "is_correct": true,
      "response_time": 27.297314167022705
    }
  ]
}