0,1,2,3,4,5,correct,choiceA_probs,choiceB_probs,choiceC_probs,choiceD_probs
In a Robertsonian translocation fusion occurs at the:,telomeres.,centromeres.,histones.,ends of the long arms.,B,True,0.1303885132074356,0.2149743139743805,0.11506745964288712,0.2149743139743805
Zinc finger proteins and helix-turn-helix proteins are,types of DNA-binding proteins,involved in the control of translation,components of ribosomes,part of the hemoglobin in blood cells,A,True,0.5268087983131409,0.04324309900403023,0.06291833519935608,0.0807887464761734
"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?",0.01,0.001,0.02,0.0001,A,False,0.14597472548484802,0.08853814750909805,0.3090284764766693,0.24067163467407227
In DNA adenine normally pairs with:,cytosine.,guanine.,thymine.,uracil.,C,False,0.5778028964996338,0.07819712162017822,0.07819712162017822,0.06089997664093971
The pattern of inheritance shown by malignant hyperthermia (hyperpyrexia) is:,autosomal dominant.,autosomal recessive.,X-linked dominant.,X-linked recessive.,A,True,0.3714725077152252,0.13665711879730225,0.13665711879730225,0.13665711879730225
Mapping of human chromosomes:,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 involved in coding for genes,B,True,0.15239879488945007,0.3226282596588135,0.11868831515312195,0.19568392634391785
Intergenerational transmission to offspring can occur as a result of parental exposures to ______.,war,natural disasters,hunger,all of these,D,True,0.025354662910103798,0.010569396428763866,0.0536758229136467,0.5092620253562927
Asp235Phe in a molecular report indicates that:,asparagine has been replaced by phenylalanine.,phenylalanine has been replaced by asparagine.,aspartic acid has been replaced by phenylalanine.,phenylalanine has been replaced by aspartic acid.,C,False,0.33363381028175354,0.12273702770471573,0.10831503570079803,0.17858131229877472
The risk of abnormality in the child of a mother with untreated phenylketonuria is:,1%,10%,25%,Almost 100%,D,False,0.3683861494064331,0.09314260631799698,0.17401330173015594,0.13552170991897583
Exon skipping is associated with:,nonsense mutations.,regulatory mutations.,RNA processing mutations.,silent mutations.,C,True,0.20274917781352997,0.10852382332086563,0.29499831795692444,0.20274917781352997
Which of the following is not a chromosome instability syndrome?,Klinefelter syndrome,Ataxia telangiectasia,Fanconi anaemia,Bloom syndrome,A,False,0.18221326172351837,0.11051791906356812,0.18221326172351837,0.26511871814727783
Normal adult haemoglobin (Hb A) consists of:,two α (alpha) and two β (beta) chains.,two α and two γ (gamma) chains.,two α and two δ (delta) chains.,four γ chains.,A,True,0.5474190711975098,0.030883273109793663,0.027254391461610794,0.10779320448637009
In a condition such as schizophrenia the recurrence risk will be greatest for which of the following relatives of an affected individual?,Brother,Nephew,Grandchild,Aunt,A,True,0.29909226298332214,0.08569137006998062,0.23293329775333405,0.1100299060344696
The mutation in sickle-cell disease consists of:,a deletion.,a duplication.,an insertion.,a point mutation.,D,True,0.25303930044174194,0.07249697297811508,0.1739112138748169,0.286731094121933
Which of the following is an example of monosomy?,"46,XX","47,XXX","69,XYY","45,X",D,True,0.2229522317647934,0.08201954513788223,0.19675464928150177,0.28627631068229675
QTL analysis is used to,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,A,True,0.552714467048645,0.051410455256700516,0.10883592814207077,0.08476151525974274
What would be the frequency of AABBCC individuals from a mating of two AaBbCc individuals?,1.0/64,1.0/32,1.0/128,1.0/256,A,True,0.32234987616539,0.03849920257925987,0.19551508128643036,0.22154761850833893
It is currently estimated that there are ______ human protein-coding genes although this estimate may be reduced over time.,"10,000–15,000","19,000–20,000","29,000–30,000","100,000",B,False,0.5783937573432922,0.05379899963736534,0.0609622523188591,0.05379899963736534
With which of the following relatives is an individual most likely to share a common HLA haplotype?,Father,Mother,Sister,Son,C,False,0.24439673125743866,0.1154448464512825,0.16797125339508057,0.1154448464512825
Which of the following genes conveys susceptibility for polygenic Alzheimer disease?,APP,PS1,PS2,APOE,D,True,0.23590736091136932,0.04645291343331337,0.09834082424640656,0.34324318170547485
The DiGeorge/Shprintzen syndrome is caused by a deletion in which chromosome?,4,7,15,22,D,False,0.15926368534564972,0.0965983122587204,0.26258140802383423,0.26258140802383423
X-chromosome inactivation,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,A,True,0.7596867680549622,0.037822578102350235,0.022940553724765778,0.022940553724765778
The pattern of inheritance shown by glucose-6-phosphate dehydrogenase (G6PD) deficiency is:,autosomal dominant.,autosomal recessive.,X-linked dominant.,X-linked recessive.,D,False,0.3437404930591583,0.18399102985858917,0.12645506858825684,0.12645506858825684
Homeobox sequences,are present in the genome of many animal species,are found in prokaryotes but not in eukaryotes,were identified as the integration sites for bacterial viruses,represent integration sites for transposable elements,A,False,0.18530894815921783,0.060161005705595016,0.18530894815921783,0.26962292194366455
Which of the following karyotypes is diagnostic of Down syndrome,"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)",A,False,0.2142920345067978,0.12997469305992126,0.2142920345067978,0.24282468855381012
"Nature is more important for ______ differences, while nurture has greater influence on ______ differences.",structural and anatomical; psychological and social,psychological and social; structural and anatomical,structural and psychological; anatomical and social,social and anatomical; psychological and structural,A,True,0.41508328914642334,0.07213065028190613,0.07213065028190613,0.06365508586168289
Which of the following would result in Angelman syndrome?,Maternal UPD 15,Paternal UPD 15,Deletion in the paternally derived chromosome 15,A mutation in the SNRPN promoter,B,False,0.26460158824920654,0.08590355515480042,0.18185783922672272,0.18185783922672272
Recombinant alpha-iduronidase is used for the treatment of which disease/syndrome?,Fabry disease,Gaucher disease,Hurler syndrome,Pompe disease,C,False,0.5364407896995544,0.15369285643100739,0.049896761775016785,0.08226586133241653
Research from Moshe Szyf and colleagues has provided significant findings on the epigenetic influences of prenatal maternal stress. This work has been labelled ______.,developmental epigenetics,social epigenetics,fetal epigenetics,maternal epigenetics,B,False,0.5295624136924744,0.043469130992889404,0.033853791654109955,0.10427701473236084
If both parents are affected with the same autosomal recessive disorder then the probability that each of their children will be affected equals ___.,1 in 4,1 in 2,2 in 3,1,D,False,0.3382573425769806,0.07547541707754135,0.14100663363933563,0.15978145599365234
The mutational mechanism in δβ-thalassaemia consists of:,a deletion.,a duplication.,an insertion.,a point mutation.,A,True,0.2759609520435333,0.10152037441730499,0.14771126210689545,0.24353468418121338
"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:",0.8,0.64,0.48,0.32,C,True,0.17025916278362274,0.10326741635799408,0.2807099223136902,0.19292891025543213
Familial hypercholesterolaemia is caused by mutations in the gene which encodes what?,High density lipoprotein,HMG-CoA reductase,Low density lipoprotein,Low density lipoprotein receptor,D,False,0.36245787143707275,0.24911341071128845,0.049053337424993515,0.13334080576896667
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?,epistasis,incomplete dominance,codominance,inbreeding depression,B,False,0.42192214727401733,0.07331907004117966,0.22583866119384766,0.03056393936276436
The proportion of babies that have an abnormality identifiable at birth is _____.,1 in 10,1 in 40,1 in 100,1 in 500,B,False,0.19313403964042664,0.06270144134759903,0.28100836277008057,0.19313403964042664
______ explained genetic disorders such as alkaptonuria and albinism.,Recessive inheritance has,Dominant genes have,X chromosomes,Y chromosomes,A,True,0.2653461992740631,0.052249759435653687,0.16094060242176056,0.11061275005340576
Which of the following conditions shows anticipation in paternal transmission?,Huntington disease,Marfan syndrome,Cystic fibrosis,Fragile X syndrome,A,False,0.16129857301712036,0.14234548807144165,0.3013454079627991,0.23468802869319916
A homeotic mutation is one which,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,B,False,0.29739534854888916,0.1239728257060051,0.14047962427139282,0.10940564423799515
Which of the following is not a familial cancer syndrome,Familial adenomatous polyposis,Li-Fraumeni syndrome,Von Hippel-Lindau syndrome,Waardenburg syndrome,D,True,0.1261068433523178,0.0982121080160141,0.2355985790491104,0.26696816086769104
"The epigenetic inheritance system has been described as ______ (Mayr and Provine, 1980).",genotype inheritance,soft inheritance,RNA inheritance,hard inheritance,B,False,0.186307892203331,0.1280474215745926,0.11300144344568253,0.27107638120651245
Severe anaemia at birth is a feature of what?,Alpha-thalassaemia,Beta-thalassaemia,Hereditary persistence of fetal haemoglobin,Sickle cell disease,A,True,0.29553863406181335,0.12319883704185486,0.10872260481119156,0.2301657348871231
"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 _______.",1 in 1000,1 in 4000,1 in 10 000,1 in 40 000,C,False,0.20682188868522644,0.08621619641780853,0.20682188868522644,0.23435990512371063
Tay-Sachs disease is caused by deficiency of _________________?,Alpha-L-iduronidase,Glucose-6-phosphatase,Hexosaminidase A,Homogentisic acid oxidase,C,False,0.49662065505981445,0.019256072118878365,0.2070222795009613,0.03174789622426033
A nonsense mutation involves:,a regulatory sequence.,an AG splice acceptor site.,the creation of a different amino acid.,the creation of a stop codon.,D,False,0.03454476222395897,0.01849047839641571,0.5403710007667542,0.19879139959812164
The polymerase chain reaction or PCR is a technique that,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,C,True,0.03000728227198124,0.008597230538725853,0.7738980054855347,0.01606173999607563
The maternal serum level of alpha-fetoprotein (AFP) is lower than average in which situation?,Down syndrome,Exomphalos,Neural tube defects,Twin pregnancies,A,True,0.3246883153915405,0.1054108664393425,0.17379315197467804,0.19693343341350555
"______ 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).",Fetal plasticity,The fetal origins hypothesis,Developmental plasticity,Environmental plasticity,C,False,0.30038318037986755,0.0975201353430748,0.11050480604171753,0.1821916103363037
Arabidopsis is advantageous for plant genetic research because:,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,D,True,0.01983783394098282,0.008269638754427433,0.1007448211312294,0.5797464847564697
The proportion of genes shared by first cousins is on average ___.,1.0/2,1.0/4,1.0/8,1.0/16,C,False,0.17968252301216125,0.0961771160364151,0.23071691393852234,0.29624637961387634
Which of the following is not a tumour suppressor gene?,APC,NF1,RB1,RET,D,True,0.15130503475666046,0.04334961622953415,0.1942795068025589,0.3203127682209015
Which of the following is a feature of X-linked dominant inheritance?,Parental consanguinity,Male to male transmission,Transmission only by females,Transmitted by males only to females,D,False,0.27239739894866943,0.14580383896827698,0.11355213075876236,0.27239739894866943
"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?",about 2,about 4,about 20,about 50,C,False,0.33074432611465454,0.07379903644323349,0.13787473738193512,0.08362525701522827
Positional cloning refers to,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,D,True,0.011755678802728653,0.0091553321108222,0.028200406581163406,0.7272980809211731
Plasmid vectors for cloning,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,B,False,0.22655579447746277,0.12126658111810684,0.12126658111810684,0.155709370970726
Transcriptional activator proteins,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,A,True,0.34713542461395264,0.11269836872816086,0.09945596754550934,0.11269836872816086
"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: ",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,B,False,0.19926150143146515,0.1369502991437912,0.1551850140094757,0.289923757314682
"In meiosis, recombination occurs in:",Metaphase I.,Prophase I.,Metaphase II.,Prophase II.,B,False,0.35798484086990356,0.11622066050767899,0.14923028647899628,0.10256437957286835
Leber's hereditary optic atrophy is caused by a mutation in:,chromosome 12.,chromosome 18.,chromosome 21.,mitochondrial DNA.,D,False,0.14510899782180786,0.06854463368654251,0.3071957230567932,0.21113233268260956
"Regarding exons, which, if any, of the following statements is correct?",Some exons in protein-coding genes consist of noncoding DNA.,The first exon of a protein-coding gene always contains the translational start site.,The last exon of a protein-coding gene always contains the normal termination codon.,A coding exon is always translated in just one of the three possible forward reading frames.,A,False,0.2066577821969986,0.12534427642822266,0.16094523668289185,0.26535382866859436
"In humans, each cell normally contains ______ of chromosomes.",11 pairs,23 pairs,32 pairs,46 pairs,B,True,0.10462835431098938,0.5313466787338257,0.023345744237303734,0.023345744237303734
"An increase in the inbreeding coefficient, F, is likely to result in:",reduced likelihood of heterozygotes being present in a population,higher proportion of genes that show linkage,higher proportion of genes with introns,higher level of difference between RNA molecules in two daughter cells,A,True,0.3730003833770752,0.09430927038192749,0.1554896980524063,0.12109549343585968
Which of the following findings on prenatal ultrasound examination would not raise suspicion of a chromosome abnormality?,Duodenal atresia,Holoprosencephaly,Hydrops fetalis,Monozygotic twins,D,True,0.12827646732330322,0.08816304802894592,0.23965200781822205,0.30771926045417786
"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:",0.4,0.32,0.08,0.02,C,False,0.25175347924232483,0.09261493384838104,0.17302747070789337,0.25175347924232483
An Hfr strain of E. coli contains:,a vector of yeast or bacterial origin which is used to make many copies of a particular DNA sequence,a bacterial chromosome with a human gene inserted,a bacterial chromosome with the F factor inserted,a human chromosome with a transposable element inserted,C,False,0.44687333703041077,0.07765493541955948,0.08799457550048828,0.14507852494716644
Male to male transmission is a key feature of which pattern of inheritance?,Autosomal dominant,Autosomal recessive,X-linked dominant,X-linked recessive,A,True,0.2891947031021118,0.13660591840744019,0.13660591840744019,0.15479478240013123
Simple tandem repeat polymorphisms in humans are most useful for,solving criminal and paternity cases,reconstructing the relationships of humans and chimps.,estimating relationships of humans and Neanderthals,transferring disease resistance factors into bone marrow cells,A,False,0.16380855441093445,0.16380855441093445,0.23834003508090973,0.12757423520088196
Which of the following disorders is not suitable for population carrier screening?,Cystic fibrosis,Oculocutaneous albinism,Sickle cell disease,Tay-Sachs disease,B,False,0.12754970788955688,0.06827244162559509,0.23829422891139984,0.30597585439682007
Which of the following disorders does not show X-linked inheritance?,Duchenne muscular dystrophy,Tay-Sachs disease,Haemophilia A,Haemophilia B,B,False,0.1982067972421646,0.13622541725635529,0.1982067972421646,0.17491687834262848
The most common chromosome abnormality in first trimester spontaneous miscarriages is:,trisomy.,monosomy.,triploidy.,tetrasomy.,A,True,0.7473514676094055,0.0421626903116703,0.04777657985687256,0.0372084379196167
Which of the following karyotypes is not compatible with survival to birth?,"47,XY,+13","47,XX,+18","47,XY,+21","45,Y",D,True,0.17895130813121796,0.08453061431646347,0.2027783989906311,0.2950408458709717
Male breast cancer is associated with mutations in ___.,BRCA1,BRCA2,NF1,RET,B,False,0.45074620842933655,0.18789897859096527,0.061001867055892944,0.03265194967389107
Pseudocholinesterase deficiency is associated with increased sensitivity to what?,Fava beans,Halothane,Primaquine,Succinylcholine,D,True,0.11309122294187546,0.060533374547958374,0.07772639393806458,0.5743246674537659
The most common cystic fibrosis mutation consists of:,a deletion.,a duplication.,a substitution.,an insertion.,A,True,0.4108300805091858,0.07139156013727188,0.15113595128059387,0.17125944793224335
The normal human chromosome diploid number is:,23,24,46,48,C,True,0.2889263331890106,0.02092975191771984,0.42038530111312866,0.056892964988946915
Advantages of using adenoviruses for gene therapy include:,long term expression.,low risk of insertional mutagenesis.,low immunogenecity.,easy assembly.,B,False,0.20479454100131989,0.20479454100131989,0.08537106215953827,0.20479454100131989
Which of the following statements about Hirschsprung disease is incorrect?,It shows an association with Down syndrome.,It is more common in girls than in boys.,RET is a major susceptibility gene.,Recurrence risks are greater for long segment disease than for short segment disease.,B,False,0.13425962626934052,0.09227520227432251,0.19534660875797272,0.3220720887184143
Which of the following conditions is caused by a trinucleotide (triplet) repeat expansion?,Cystic fibrosis,Duchenne muscular dystrophy,Huntington disease,Osteogenesis imperfecta,C,False,0.30407771468162537,0.12675845623016357,0.2683476507663727,0.06784891337156296
Which of the following causes female pseudohermaphroditism?,Androgen insensitivity,Campomelic dysplasia,Congenital adrenal hyperplasia,Klinefelter syndrome,C,False,0.29645705223083496,0.09624551236629486,0.20375175774097443,0.20375175774097443
Which component of transcribed RNA in eukaryotes is present in the initial transcript but is removed before translation occurs?,Intron,3’ Poly A tail,Ribosome binding site,5’ cap,A,True,0.3913591504096985,0.03212471678853035,0.09895108640193939,0.18486498296260834
Which of the following is not a recognized complication of cystic fibrosis?,Cancer of the oesophagus,Congenital absence of the vas deferens,Diabetes mellitus,Liver cirrhosis,A,False,0.14763429760932922,0.0697375014424324,0.14763429760932922,0.2758171856403351
Which of the following diagnostic techniques is of no value for the diagnosis of neural tube defects?,Amniocentesis,Chorion villus sampling (CVS),Maternal serum screening,Ultrasonography,B,False,0.3129943609237671,0.1304754614830017,0.16753381490707397,0.16753381490707397
Which of the following conditions is a peroxisomal disorder?,Acute intermittent porphyria,Maple syrup urine disease,Medium chain acyl-CoA dehydrogenase deficiency,Zellweger syndrome,D,True,0.10447439551353455,0.10447439551353455,0.1341477781534195,0.41320425271987915
Marked microsatellite instability is a feature of:,familial adenomatous polyposis.,hereditary non-polyposis colon cancer (HNPCC).,multiple endocrine adenomatosis type 2.,neurofibromatosis 1.,B,False,0.30532145500183105,0.23778459429740906,0.08747605979442596,0.16342680156230927
The common mutation in α-thalassaemia consists of:,a deletion.,a duplication.,an insertion.,a point mutation.,A,True,0.44326165318489075,0.08728338778018951,0.08728338778018951,0.16306686401367188
A baby born with pulmonary hypoplasia secondary to oligohydramnios caused by renal agenesis would be classified as having:,an association.,a dysplasia.,a sequence.,a syndrome.,C,True,0.21841861307621002,0.05522487685084343,0.2475007176399231,0.2475007176399231
The ______ is the set of observable characteristics and is the sum of genetic and environmental effects.,genotype,phenotype,both genotype and phenotype,neither genotype or phenotype,B,True,0.28656136989593506,0.3679520785808563,0.02352238819003105,0.005947391036897898
Which of the following trisomy karyotypes has the mildest effect on human development?,"47,XXX","47,XXY","47,XX,+13","47,XY,+21",A,True,0.25678595900535583,0.09446629136800766,0.15574856102466583,0.25678595900535583
Mutations that cause achondroplasia exert an effect which can be classified as:,dominant negative.,gain-of-function.,haploinsufficiency.,loss-of-function.,B,False,0.043179117143154144,0.05544308200478554,0.13300104439258575,0.4096720516681671
The presence of two or more cell lines from different zygotes in a single individual is known as:,mosaicism.,diploidy.,aneuploidy.,chimaerism.,D,False,0.7914494872093201,0.012792589142918587,0.07361626625061035,0.021091414615511894
The risk for miscarriage associated with amniocentesis is approximately ____.,1 in 10,1 in 50,1 in 100 to 1 in 200,1 in 1000,C,False,0.1599508374929428,0.07555542141199112,0.23272709548473358,0.29882749915122986
Autozygosity mapping is used to map disorders that show which pattern of inheritance?,Autosomal dominant,Autosomal recessive,X-linked dominant,X-linked recessive,B,False,0.2682811915874481,0.14360058307647705,0.14360058307647705,0.16272076964378357
Consanguinity shows a strong association with which pattern of inheritance?,Autosomal dominant,Autosomal recessive,X-linked dominant,X-linked recessive,B,False,0.32630655169487,0.17465932667255402,0.10593622922897339,0.12004148960113525
Most new mutations appear to be,beneficial,neutral or deleterious,present in homozygotes rather than heterozygotes,detectable using allozyme studies (protein electrophoresis),B,True,0.15206977725028992,0.25072067975997925,0.19526144862174988,0.17231762409210205
Twin studies in humans are useful because,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,A,True,0.7125042080879211,0.014787552878260612,0.014787552878260612,0.024380553513765335
Complete the following sentence. The Philadelphia chromosome:,is an example of gene amplification.,is a product of a reciprocal translocation.,causes Burkitt's lymphoma.,causes retinoblastoma.,B,False,0.38039204478263855,0.17968448996543884,0.10898414999246597,0.12349522113800049
Enzyme assay can be used to identify carriers of:,Cystic fibrosis.,Fragile X syndrome.,Oculocutaneous albinism.,Tay-Sachs disease.,D,False,0.3580693304538727,0.10258858650922775,0.16913999617099762,0.14926551282405853
A high blood ammonia level occurs in:,galactosaemia.,Hurler's syndrome.,ornithine transcarbamylase (OTC) deficiency.,phenylketonuria.,C,False,0.1929299384355545,0.10326796025037766,0.17026007175445557,0.2807113826274872
"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.",only 5%,less than 1%,only 13%,less than 2%,D,True,0.20591138303279877,0.05206255242228508,0.16036395728588104,0.33949047327041626
Differential distribution of substances in the egg most typically results in:,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,A,True,0.6146313548088074,0.050452012568712234,0.05716961994767189,0.09425677359104156
Which of the following conditions is not caused by a mutation in FGFR3?,Achondroplasia,Crouzon syndrome,Thanatophoric dysplasia,Waardenburg syndrome,D,True,0.11192408204078674,0.07692422717809677,0.20910172164440155,0.34475046396255493