In a Robertsonian translocation fusion occurs at the:<n>A.telomeres.<n>B.centromeres.<n>C.histones.<n>D.ends of the long arms.[SEP]B
Zinc finger proteins and helix-turn-helix proteins are<n>A.types of DNA-binding proteins<n>B.involved in the control of translation<n>C.components of ribosomes<n>D.part of the hemoglobin in blood cells[SEP]A
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?<n>A.0.01<n>B.0.001<n>C.0.02<n>D.0.0001[SEP]A
In DNA adenine normally pairs with:<n>A.cytosine.<n>B.guanine.<n>C.thymine.<n>D.uracil.[SEP]C
The pattern of inheritance shown by malignant hyperthermia (hyperpyrexia) is:<n>A.autosomal dominant.<n>B.autosomal recessive.<n>C.X-linked dominant.<n>D.X-linked recessive.[SEP]A
Mapping of human chromosomes:<n>A.has been restricted to the sex chromosomes because of small family sizes<n>B.proceeded much more successfully as large numbers of DNA markers became available.<n>C.has determined that the number of linkage groups is about twice the number of chromosomes<n>D.has demonstrated that almost all of the DNA is involved in coding for genes[SEP]B
Intergenerational transmission to offspring can occur as a result of parental exposures to ______.<n>A.war<n>B.natural disasters<n>C.hunger<n>D.all of these[SEP]D
Asp235Phe in a molecular report indicates that:<n>A.asparagine has been replaced by phenylalanine.<n>B.phenylalanine has been replaced by asparagine.<n>C.aspartic acid has been replaced by phenylalanine.<n>D.phenylalanine has been replaced by aspartic acid.[SEP]C
The risk of abnormality in the child of a mother with untreated phenylketonuria is:<n>A.1%<n>B.10%<n>C.25%<n>D.Almost 100%[SEP]D
Exon skipping is associated with:<n>A.nonsense mutations.<n>B.regulatory mutations.<n>C.RNA processing mutations.<n>D.silent mutations.[SEP]C
Which of the following is not a chromosome instability syndrome?<n>A.Klinefelter syndrome<n>B.Ataxia telangiectasia<n>C.Fanconi anaemia<n>D.Bloom syndrome[SEP]A
Normal adult haemoglobin (Hb A) consists of:<n>A.two α (alpha) and two β (beta) chains.<n>B.two α and two γ (gamma) chains.<n>C.two α and two δ (delta) chains.<n>D.four γ chains.[SEP]A
In a condition such as schizophrenia the recurrence risk will be greatest for which of the following relatives of an affected individual?<n>A.Brother<n>B.Nephew<n>C.Grandchild<n>D.Aunt[SEP]A
The mutation in sickle-cell disease consists of:<n>A.a deletion.<n>B.a duplication.<n>C.an insertion.<n>D.a point mutation.[SEP]D
Which of the following is an example of monosomy?<n>A.46,XX<n>B.47,XXX<n>C.69,XYY<n>D.45,X[SEP]D
QTL analysis is used to<n>A.identify chromosome regions associated with a complex trait in a genetic cross<n>B.determine which genes are expressed at a developmental stage<n>C.map genes in bacterial viruses<n>D.identify RNA polymerase binding sites[SEP]A
What would be the frequency of AABBCC individuals from a mating of two AaBbCc individuals?<n>A.1.0/64<n>B.1.0/32<n>C.1.0/128<n>D.1.0/256[SEP]A
It is currently estimated that there are ______ human protein-coding genes although this estimate may be reduced over time.<n>A.10,000–15,000<n>B.19,000–20,000<n>C.29,000–30,000<n>D.100,000[SEP]B
With which of the following relatives is an individual most likely to share a common HLA haplotype?<n>A.Father<n>B.Mother<n>C.Sister<n>D.Son[SEP]C
Which of the following genes conveys susceptibility for polygenic Alzheimer disease?<n>A.APP<n>B.PS1<n>C.PS2<n>D.APOE[SEP]D
The DiGeorge/Shprintzen syndrome is caused by a deletion in which chromosome?<n>A.4<n>B.7<n>C.15<n>D.22[SEP]D
X-chromosome inactivation<n>A.results in genetically turning off one of the two X chromosomes in female mammals<n>B.takes place in humans so that the same X chromosome is inactive in all of the cells of a female<n>C.is the cause of the Y chromosome being genetically inactive<n>D.occurs in fruit flies but not in mammals[SEP]A
The pattern of inheritance shown by glucose-6-phosphate dehydrogenase (G6PD) deficiency is:<n>A.autosomal dominant.<n>B.autosomal recessive.<n>C.X-linked dominant.<n>D.X-linked recessive.[SEP]D
Homeobox sequences<n>A.are present in the genome of many animal species<n>B.are found in prokaryotes but not in eukaryotes<n>C.were identified as the integration sites for bacterial viruses<n>D.represent integration sites for transposable elements[SEP]A
Which of the following karyotypes is diagnostic of Down syndrome<n>A.46,XX,der(14;21)(q10;q10)pat+21<n>B.47,XY,+13<n>C.45,XX,rob,(14;21)(q10;q10)<n>D.46,XY,t(2;3)(q21;q12)[SEP]A
Nature is more important for ______ differences, while nurture has greater influence on ______ differences.<n>A.structural and anatomical; psychological and social<n>B.psychological and social; structural and anatomical<n>C.structural and psychological; anatomical and social<n>D.social and anatomical; psychological and structural[SEP]A
Which of the following would result in Angelman syndrome?<n>A.Maternal UPD 15<n>B.Paternal UPD 15<n>C.Deletion in the paternally derived chromosome 15<n>D.A mutation in the SNRPN promoter[SEP]B
Recombinant alpha-iduronidase is used for the treatment of which disease/syndrome?<n>A.Fabry disease<n>B.Gaucher disease<n>C.Hurler syndrome<n>D.Pompe disease[SEP]C
Research from Moshe Szyf and colleagues has provided significant findings on the epigenetic influences of prenatal maternal stress. This work has been labelled ______.<n>A.developmental epigenetics<n>B.social epigenetics<n>C.fetal epigenetics<n>D.maternal epigenetics[SEP]B
If both parents are affected with the same autosomal recessive disorder then the probability that each of their children will be affected equals ___.<n>A.1 in 4<n>B.1 in 2<n>C.2 in 3<n>D.1[SEP]D
The mutational mechanism in δβ-thalassaemia consists of:<n>A.a deletion.<n>B.a duplication.<n>C.an insertion.<n>D.a point mutation.[SEP]A
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:<n>A.0.8<n>B.0.64<n>C.0.48<n>D.0.32[SEP]C
Familial hypercholesterolaemia is caused by mutations in the gene which encodes what?<n>A.High density lipoprotein<n>B.HMG-CoA reductase<n>C.Low density lipoprotein<n>D.Low density lipoprotein receptor[SEP]D
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?<n>A.epistasis<n>B.incomplete dominance<n>C.codominance<n>D.inbreeding depression[SEP]B
The proportion of babies that have an abnormality identifiable at birth is _____.<n>A.1 in 10<n>B.1 in 40<n>C.1 in 100<n>D.1 in 500[SEP]B
______ explained genetic disorders such as alkaptonuria and albinism.<n>A.Recessive inheritance has<n>B.Dominant genes have<n>C.X chromosomes<n>D.Y chromosomes[SEP]A
Which of the following conditions shows anticipation in paternal transmission?<n>A.Huntington disease<n>B.Marfan syndrome<n>C.Cystic fibrosis<n>D.Fragile X syndrome[SEP]A
A homeotic mutation is one which<n>A.is present in only one form in an individual<n>B.substitutes one body part for another in development<n>C.results in development of a tumor<n>D.is wild type at one temperature and abnormal at another[SEP]B
Which of the following is not a familial cancer syndrome<n>A.Familial adenomatous polyposis<n>B.Li-Fraumeni syndrome<n>C.Von Hippel-Lindau syndrome<n>D.Waardenburg syndrome[SEP]D
The epigenetic inheritance system has been described as ______ (Mayr and Provine, 1980).<n>A.genotype inheritance<n>B.soft inheritance<n>C.RNA inheritance<n>D.hard inheritance[SEP]B
Severe anaemia at birth is a feature of what?<n>A.Alpha-thalassaemia<n>B.Beta-thalassaemia<n>C.Hereditary persistence of fetal haemoglobin<n>D.Sickle cell disease[SEP]A
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 _______.<n>A.1 in 1000<n>B.1 in 4000<n>C.1 in 10 000<n>D.1 in 40 000[SEP]C
Tay-Sachs disease is caused by deficiency of _________________?<n>A.Alpha-L-iduronidase<n>B.Glucose-6-phosphatase<n>C.Hexosaminidase A<n>D.Homogentisic acid oxidase[SEP]C
A nonsense mutation involves:<n>A.a regulatory sequence.<n>B.an AG splice acceptor site.<n>C.the creation of a different amino acid.<n>D.the creation of a stop codon.[SEP]D
The polymerase chain reaction or PCR is a technique that<n>A.was used to demonstrate DNA as the genetic material<n>B.is used to determine the content of minerals in a soil sample<n>C.uses short DNA primers and a thermostable DNA polymerase to replicate specific DNA sequences in vitro.<n>D.measures the ribosome transfer rate during translation[SEP]C
The maternal serum level of alpha-fetoprotein (AFP) is lower than average in which situation?<n>A.Down syndrome<n>B.Exomphalos<n>C.Neural tube defects<n>D.Twin pregnancies[SEP]A
______ 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).<n>A.Fetal plasticity<n>B.The fetal origins hypothesis<n>C.Developmental plasticity<n>D.Environmental plasticity[SEP]C
Arabidopsis is advantageous for plant genetic research because:<n>A.it is commercially important as a food crop<n>B.it is an endangered species<n>C.it is the closest to humans of any existing plant<n>D.it is a small plant with a small genome size which can be raised inexpensively[SEP]D
The proportion of genes shared by first cousins is on average ___.<n>A.1.0/2<n>B.1.0/4<n>C.1.0/8<n>D.1.0/16[SEP]C
Which of the following is not a tumour suppressor gene?<n>A.APC<n>B.NF1<n>C.RB1<n>D.RET[SEP]D
Which of the following is a feature of X-linked dominant inheritance?<n>A.Parental consanguinity<n>B.Male to male transmission<n>C.Transmission only by females<n>D.Transmitted by males only to females[SEP]D
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?<n>A.about 2<n>B.about 4<n>C.about 20<n>D.about 50[SEP]C
Positional cloning refers to<n>A.using a selection procedure to clone a cDNA<n>B.cloning a portion of a gene using PCR<n>C.isolating a gene by PCR using primers from another species<n>D.mapping a gene to a chromosomal region and then identifying and cloning a genomic copy of the gene from the region[SEP]D
Plasmid vectors for cloning<n>A.can generally accommodate larger inserts than phage vectors can<n>B.grow within bacteria, and are present in bacterial colonies on an agar plate<n>C.can accommodate inserts of over 100 kilobases<n>D.include centromeres to allow propagation in yeast[SEP]B
Transcriptional activator proteins<n>A.bind regions near a eukaryotic gene and allow an RNA polymerase to transcribe a gene<n>B.bind to ribosomes to activate the production of specific proteins<n>C.are produced during an infection of bacteria by a phage<n>D.are essential to function of transfer RNAs during translation[SEP]A
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: <n>A.constitutive expression of the lac operon genes<n>B.lack of expression or reduced expression of the lac operon genes under all circumstances<n>C.expression of the genes only when lactose is present<n>D.expression of the genes only when lactose is absent[SEP]B
In meiosis, recombination occurs in:<n>A.Metaphase I.<n>B.Prophase I.<n>C.Metaphase II.<n>D.Prophase II.[SEP]B
Leber's hereditary optic atrophy is caused by a mutation in:<n>A.chromosome 12.<n>B.chromosome 18.<n>C.chromosome 21.<n>D.mitochondrial DNA.[SEP]D
Regarding exons, which, if any, of the following statements is correct?<n>A.Some exons in protein-coding genes consist of noncoding DNA.<n>B.The first exon of a protein-coding gene always contains the translational start site.<n>C.The last exon of a protein-coding gene always contains the normal termination codon.<n>D.A coding exon is always translated in just one of the three possible forward reading frames.[SEP]A
In humans, each cell normally contains ______ of chromosomes.<n>A.11 pairs<n>B.23 pairs<n>C.32 pairs<n>D.46 pairs[SEP]B
An increase in the inbreeding coefficient, F, is likely to result in:<n>A.reduced likelihood of heterozygotes being present in a population<n>B.higher proportion of genes that show linkage<n>C.higher proportion of genes with introns<n>D.higher level of difference between RNA molecules in two daughter cells[SEP]A
Which of the following findings on prenatal ultrasound examination would not raise suspicion of a chromosome abnormality?<n>A.Duodenal atresia<n>B.Holoprosencephaly<n>C.Hydrops fetalis<n>D.Monozygotic twins[SEP]D
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:<n>A.0.4<n>B.0.32<n>C.0.08<n>D.0.02[SEP]C
An Hfr strain of E. coli contains:<n>A.a vector of yeast or bacterial origin which is used to make many copies of a particular DNA sequence<n>B.a bacterial chromosome with a human gene inserted<n>C.a bacterial chromosome with the F factor inserted<n>D.a human chromosome with a transposable element inserted[SEP]C
Male to male transmission is a key feature of which pattern of inheritance?<n>A.Autosomal dominant<n>B.Autosomal recessive<n>C.X-linked dominant<n>D.X-linked recessive[SEP]A
Simple tandem repeat polymorphisms in humans are most useful for<n>A.solving criminal and paternity cases<n>B.reconstructing the relationships of humans and chimps.<n>C.estimating relationships of humans and Neanderthals<n>D.transferring disease resistance factors into bone marrow cells[SEP]A
Which of the following disorders is not suitable for population carrier screening?<n>A.Cystic fibrosis<n>B.Oculocutaneous albinism<n>C.Sickle cell disease<n>D.Tay-Sachs disease[SEP]B
Which of the following disorders does not show X-linked inheritance?<n>A.Duchenne muscular dystrophy<n>B.Tay-Sachs disease<n>C.Haemophilia A<n>D.Haemophilia B[SEP]B
The most common chromosome abnormality in first trimester spontaneous miscarriages is:<n>A.trisomy.<n>B.monosomy.<n>C.triploidy.<n>D.tetrasomy.[SEP]A
Which of the following karyotypes is not compatible with survival to birth?<n>A.47,XY,+13<n>B.47,XX,+18<n>C.47,XY,+21<n>D.45,Y[SEP]D
Male breast cancer is associated with mutations in ___.<n>A.BRCA1<n>B.BRCA2<n>C.NF1<n>D.RET[SEP]B
Pseudocholinesterase deficiency is associated with increased sensitivity to what?<n>A.Fava beans<n>B.Halothane<n>C.Primaquine<n>D.Succinylcholine[SEP]D
The most common cystic fibrosis mutation consists of:<n>A.a deletion.<n>B.a duplication.<n>C.a substitution.<n>D.an insertion.[SEP]A
The normal human chromosome diploid number is:<n>A.23<n>B.24<n>C.46<n>D.48[SEP]C
Advantages of using adenoviruses for gene therapy include:<n>A.long term expression.<n>B.low risk of insertional mutagenesis.<n>C.low immunogenecity.<n>D.easy assembly.[SEP]B
Which of the following statements about Hirschsprung disease is incorrect?<n>A.It shows an association with Down syndrome.<n>B.It is more common in girls than in boys.<n>C.RET is a major susceptibility gene.<n>D.Recurrence risks are greater for long segment disease than for short segment disease.[SEP]B
Which of the following conditions is caused by a trinucleotide (triplet) repeat expansion?<n>A.Cystic fibrosis<n>B.Duchenne muscular dystrophy<n>C.Huntington disease<n>D.Osteogenesis imperfecta[SEP]C
Which of the following causes female pseudohermaphroditism?<n>A.Androgen insensitivity<n>B.Campomelic dysplasia<n>C.Congenital adrenal hyperplasia<n>D.Klinefelter syndrome[SEP]C
Which component of transcribed RNA in eukaryotes is present in the initial transcript but is removed before translation occurs?<n>A.Intron<n>B.3’ Poly A tail<n>C.Ribosome binding site<n>D.5’ cap[SEP]A
Which of the following is not a recognized complication of cystic fibrosis?<n>A.Cancer of the oesophagus<n>B.Congenital absence of the vas deferens<n>C.Diabetes mellitus<n>D.Liver cirrhosis[SEP]A
Which of the following diagnostic techniques is of no value for the diagnosis of neural tube defects?<n>A.Amniocentesis<n>B.Chorion villus sampling (CVS)<n>C.Maternal serum screening<n>D.Ultrasonography[SEP]B
Which of the following conditions is a peroxisomal disorder?<n>A.Acute intermittent porphyria<n>B.Maple syrup urine disease<n>C.Medium chain acyl-CoA dehydrogenase deficiency<n>D.Zellweger syndrome[SEP]D
Marked microsatellite instability is a feature of:<n>A.familial adenomatous polyposis.<n>B.hereditary non-polyposis colon cancer (HNPCC).<n>C.multiple endocrine adenomatosis type 2.<n>D.neurofibromatosis 1.[SEP]B
The common mutation in α-thalassaemia consists of:<n>A.a deletion.<n>B.a duplication.<n>C.an insertion.<n>D.a point mutation.[SEP]A
A baby born with pulmonary hypoplasia secondary to oligohydramnios caused by renal agenesis would be classified as having:<n>A.an association.<n>B.a dysplasia.<n>C.a sequence.<n>D.a syndrome.[SEP]C
The ______ is the set of observable characteristics and is the sum of genetic and environmental effects.<n>A.genotype<n>B.phenotype<n>C.both genotype and phenotype<n>D.neither genotype or phenotype[SEP]B
Which of the following trisomy karyotypes has the mildest effect on human development?<n>A.47,XXX<n>B.47,XXY<n>C.47,XX,+13<n>D.47,XY,+21[SEP]A
Mutations that cause achondroplasia exert an effect which can be classified as:<n>A.dominant negative.<n>B.gain-of-function.<n>C.haploinsufficiency.<n>D.loss-of-function.[SEP]B
The presence of two or more cell lines from different zygotes in a single individual is known as:<n>A.mosaicism.<n>B.diploidy.<n>C.aneuploidy.<n>D.chimaerism.[SEP]D
The risk for miscarriage associated with amniocentesis is approximately ____.<n>A.1 in 10<n>B.1 in 50<n>C.1 in 100 to 1 in 200<n>D.1 in 1000[SEP]C
Autozygosity mapping is used to map disorders that show which pattern of inheritance?<n>A.Autosomal dominant<n>B.Autosomal recessive<n>C.X-linked dominant<n>D.X-linked recessive[SEP]B
Consanguinity shows a strong association with which pattern of inheritance?<n>A.Autosomal dominant<n>B.Autosomal recessive<n>C.X-linked dominant<n>D.X-linked recessive[SEP]B
Most new mutations appear to be<n>A.beneficial<n>B.neutral or deleterious<n>C.present in homozygotes rather than heterozygotes<n>D.detectable using allozyme studies (protein electrophoresis)[SEP]B
Twin studies in humans are useful because<n>A.they allow genetic as opposed to environmental influences on variation in a trait to be estimated<n>B.cloning of genes is facilitated by the presence of extra copies<n>C.they allow improved expression of genes<n>D.twins have a greater likelihood of being heterozygous[SEP]A
Complete the following sentence. The Philadelphia chromosome:<n>A.is an example of gene amplification.<n>B.is a product of a reciprocal translocation.<n>C.causes Burkitt's lymphoma.<n>D.causes retinoblastoma.[SEP]B
Enzyme assay can be used to identify carriers of:<n>A.Cystic fibrosis.<n>B.Fragile X syndrome.<n>C.Oculocutaneous albinism.<n>D.Tay-Sachs disease.[SEP]D
A high blood ammonia level occurs in:<n>A.galactosaemia.<n>B.Hurler's syndrome.<n>C.ornithine transcarbamylase (OTC) deficiency.<n>D.phenylketonuria.[SEP]C
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.<n>A.only 5%<n>B.less than 1%<n>C.only 13%<n>D.less than 2%[SEP]D
Differential distribution of substances in the egg most typically results in:<n>A.differences in gene expression which may establish a pattern in the embryo as the cells divide<n>B.amplification of specific genes during development<n>C.development of polyploid tissues<n>D.loss of specific genes during development[SEP]A
Which of the following conditions is not caused by a mutation in FGFR3?<n>A.Achondroplasia<n>B.Crouzon syndrome<n>C.Thanatophoric dysplasia<n>D.Waardenburg syndrome[SEP]D
