question stringlengths 23 199 | subject stringclasses 1
value | choices listlengths 4 4 | answer class label 4
classes |
|---|---|---|---|
QTL analysis is used to | medical_genetics | [
"identify chromosome regions associated with a complex trait in a genetic cross",
"determine which genes are expressed at a developmental stage",
"map genes in bacterial viruses",
"identify RNA polymerase binding sites"
] | 0A |
It is currently estimated that there are ______ human protein-coding genes although this estimate may be reduced over time. | medical_genetics | [
"10,000–15,000",
"19,000–20,000",
"29,000–30,000",
"100,000"
] | 1B |
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? | medical_genetics | [
"0.01",
"0.001",
"0.02",
"0.0001"
] | 0A |
X-chromosome inactivation | medical_genetics | [
"results in genetically turning off one of the two X chromosomes in female mammals",
"takes place in humans so that the same X chromosome is inactive in all of the cells of a female",
"is the cause of the Y chromosome being genetically inactive",
"occurs in fruit flies but not in mammals"
] | 0A |
Which of the following karyotypes is diagnostic of Down syndrome | medical_genetics | [
"46,XX,der(14;21)(q10;q10)pat+21",
"47,XY,+13",
"45,XX,rob,(14;21)(q10;q10)",
"46,XY,t(2;3)(q21;q12)"
] | 0A |
Recombinant alpha-iduronidase is used for the treatment of which disease/syndrome? | medical_genetics | [
"Fabry disease",
"Gaucher disease",
"Hurler syndrome",
"Pompe disease"
] | 2C |
Research from Moshe Szyf and colleagues has provided significant findings on the epigenetic influences of prenatal maternal stress. This work has been labelled ______. | medical_genetics | [
"developmental epigenetics",
"social epigenetics",
"fetal epigenetics",
"maternal epigenetics"
] | 1B |
If both parents are affected with the same autosomal recessive disorder then the probability that each of their children will be affected equals ___. | medical_genetics | [
"1 in 4",
"1 in 2",
"2 in 3",
"1"
] | 3D |
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: | medical_genetics | [
"0.8",
"0.64",
"0.48",
"0.32"
] | 2C |
Familial hypercholesterolaemia is caused by mutations in the gene which encodes what? | medical_genetics | [
"High density lipoprotein",
"HMG-CoA reductase",
"Low density lipoprotein",
"Low density lipoprotein receptor"
] | 3D |
The proportion of babies that have an abnormality identifiable at birth is _____. | medical_genetics | [
"1 in 10",
"1 in 40",
"1 in 100",
"1 in 500"
] | 1B |
______ explained genetic disorders such as alkaptonuria and albinism. | medical_genetics | [
"Recessive inheritance has",
"Dominant genes have",
"X chromosomes",
"Y chromosomes"
] | 0A |
A homeotic mutation is one which | medical_genetics | [
"is present in only one form in an individual",
"substitutes one body part for another in development",
"results in development of a tumor",
"is wild type at one temperature and abnormal at another"
] | 1B |
Which of the following is not a familial cancer syndrome | medical_genetics | [
"Familial adenomatous polyposis",
"Li-Fraumeni syndrome",
"Von Hippel-Lindau syndrome",
"Waardenburg syndrome"
] | 3D |
Severe anaemia at birth is a feature of what? | medical_genetics | [
"Alpha-thalassaemia",
"Beta-thalassaemia",
"Hereditary persistence of fetal haemoglobin",
"Sickle cell disease"
] | 0A |
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 _______. | medical_genetics | [
"1 in 1000",
"1 in 4000",
"1 in 10 000",
"1 in 40 000"
] | 2C |
Tay-Sachs disease is caused by deficiency of _________________? | medical_genetics | [
"Alpha-L-iduronidase",
"Glucose-6-phosphatase",
"Hexosaminidase A",
"Homogentisic acid oxidase"
] | 2C |
The polymerase chain reaction or PCR is a technique that | medical_genetics | [
"was used to demonstrate DNA as the genetic material",
"is used to determine the content of minerals in a soil sample",
"uses short DNA primers and a thermostable DNA polymerase to replicate specific DNA sequences in vitro.",
"measures the ribosome transfer rate during translation"
] | 2C |
The maternal serum level of alpha-fetoprotein (AFP) is lower than average in which situation? | medical_genetics | [
"Down syndrome",
"Exomphalos",
"Neural tube defects",
"Twin pregnancies"
] | 0A |
Arabidopsis is advantageous for plant genetic research because: | medical_genetics | [
"it is commercially important as a food crop",
"it is an endangered species",
"it is the closest to humans of any existing plant",
"it is a small plant with a small genome size which can be raised inexpensively"
] | 3D |
The proportion of genes shared by first cousins is on average ___. | medical_genetics | [
"1.0/2",
"1.0/4",
"1.0/8",
"1.0/16"
] | 2C |
Mapping of human chromosomes: | medical_genetics | [
"has been restricted to the sex chromosomes because of small family sizes",
"proceeded much more successfully as large numbers of DNA markers became available.",
"has determined that the number of linkage groups is about twice the number of chromosomes",
"has demonstrated that almost all of the DNA is involve... | 1B |
Which of the following is a feature of X-linked dominant inheritance? | medical_genetics | [
"Parental consanguinity",
"Male to male transmission",
"Transmission only by females",
"Transmitted by males only to females"
] | 3D |
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? | medical_genetics | [
"about 2",
"about 4",
"about 20",
"about 50"
] | 2C |
Positional cloning refers to | medical_genetics | [
"using a selection procedure to clone a cDNA",
"cloning a portion of a gene using PCR",
"isolating a gene by PCR using primers from another species",
"mapping a gene to a chromosomal region and then identifying and cloning a genomic copy of the gene from the region"
] | 3D |
Plasmid vectors for cloning | medical_genetics | [
"can generally accommodate larger inserts than phage vectors can",
"grow within bacteria, and are present in bacterial colonies on an agar plate",
"can accommodate inserts of over 100 kilobases",
"include centromeres to allow propagation in yeast"
] | 1B |
Transcriptional activator proteins | medical_genetics | [
"bind regions near a eukaryotic gene and allow an RNA polymerase to transcribe a gene",
"bind to ribosomes to activate the production of specific proteins",
"are produced during an infection of bacteria by a phage",
"are essential to function of transfer RNAs during translation"
] | 0A |
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: | medical_genetics | [
"constitutive expression of the lac operon genes",
"lack of expression or reduced expression of the lac operon genes under all circumstances",
"expression of the genes only when lactose is present",
"expression of the genes only when lactose is absent"
] | 1B |
In humans, each cell normally contains ______ of chromosomes. | medical_genetics | [
"11 pairs",
"23 pairs",
"32 pairs",
"46 pairs"
] | 1B |
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: | medical_genetics | [
"0.4",
"0.32",
"0.08",
"0.02"
] | 2C |
Which of the following disorders is not suitable for population carrier screening? | medical_genetics | [
"Cystic fibrosis",
"Oculocutaneous albinism",
"Sickle cell disease",
"Tay-Sachs disease"
] | 1B |
Male breast cancer is associated with mutations in ___. | medical_genetics | [
"BRCA1",
"BRCA2",
"NF1",
"RET"
] | 1B |
Which of the following causes female pseudohermaphroditism? | medical_genetics | [
"Androgen insensitivity",
"Campomelic dysplasia",
"Congenital adrenal hyperplasia",
"Klinefelter syndrome"
] | 2C |
Which of the following is not a recognized complication of cystic fibrosis? | medical_genetics | [
"Cancer of the oesophagus",
"Congenital absence of the vas deferens",
"Diabetes mellitus",
"Liver cirrhosis"
] | 0A |
The risk of abnormality in the child of a mother with untreated phenylketonuria is: | medical_genetics | [
"1%",
"10%",
"25%",
"Almost 100%"
] | 3D |
Which of the following diagnostic techniques is of no value for the diagnosis of neural tube defects? | medical_genetics | [
"Amniocentesis",
"Chorion villus sampling (CVS)",
"Maternal serum screening",
"Ultrasonography"
] | 1B |
Marked microsatellite instability is a feature of: | medical_genetics | [
"familial adenomatous polyposis.",
"hereditary non-polyposis colon cancer (HNPCC).",
"multiple endocrine adenomatosis type 2.",
"neurofibromatosis 1."
] | 1B |
A baby born with pulmonary hypoplasia secondary to oligohydramnios caused by renal agenesis would be classified as having: | medical_genetics | [
"an association.",
"a dysplasia.",
"a sequence.",
"a syndrome."
] | 2C |
Mutations that cause achondroplasia exert an effect which can be classified as: | medical_genetics | [
"dominant negative.",
"gain-of-function.",
"haploinsufficiency.",
"loss-of-function."
] | 1B |
The presence of two or more cell lines from different zygotes in a single individual is known as: | medical_genetics | [
"mosaicism.",
"diploidy.",
"aneuploidy.",
"chimaerism."
] | 3D |
The risk for miscarriage associated with amniocentesis is approximately ____. | medical_genetics | [
"1 in 10",
"1 in 50",
"1 in 100 to 1 in 200",
"1 in 1000"
] | 2C |
Exon skipping is associated with: | medical_genetics | [
"nonsense mutations.",
"regulatory mutations.",
"RNA processing mutations.",
"silent mutations."
] | 2C |
Twin studies in humans are useful because | medical_genetics | [
"they allow genetic as opposed to environmental influences on variation in a trait to be estimated",
"cloning of genes is facilitated by the presence of extra copies",
"they allow improved expression of genes",
"twins have a greater likelihood of being heterozygous"
] | 0A |
A high blood ammonia level occurs in: | medical_genetics | [
"galactosaemia.",
"Hurler's syndrome.",
"ornithine transcarbamylase (OTC) deficiency.",
"phenylketonuria."
] | 2C |
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. | medical_genetics | [
"only 5%",
"less than 1%",
"only 13%",
"less than 2%"
] | 3D |
Differential distribution of substances in the egg most typically results in: | medical_genetics | [
"differences in gene expression which may establish a pattern in the embryo as the cells divide",
"amplification of specific genes during development",
"development of polyploid tissues",
"loss of specific genes during development"
] | 0A |
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