Genetics in human and animal medicine Flashcards
a) As Duchenne muscular dystrophy (DMD) is caused by a deletion within the dystrophin gene in the X chromosome, can females be affected
b) If there is a frequency of sickle cell haemoglobin allele of 0.1, and there are 1000 people in a region, how many people would be expected to be heterozygous
c) Describe the origin of the genes on a single autosomal chromosome from one of your cells
d) What approach did the human genome project (HGP) use
e) What happens to genetic material in balanced translocations
a) Yes
b) 180
c) Genes from either your maternal grandparents or your paternal grandparents
d) The ‘whole genome shotgun’ approach
e) There is no loss of genetic material
a) What does a LOD score of +3 indicate
b) What is the mechanism by which most newly arising point mutant alleles are recessive
c) Assumptions for analysis of genotype frequencies for a pair of alleles in Hardy-Weinberg equilibrium
d) Hardy-Weinberg equation
e) In males, the X chromosome will contain genes derived from who
a) Indicates odds of 1000 to 1 that genes are linked
b) They inactivate protein function, and the homologous allele produces a normal protein
c) There is random mating, so genotype has no effect on mate selection. Population is infinitely large, so no genetic drift. No mutations, so no new alleles in the population. No selection, so no genotype has an advantage of being passed on. Migration from other populations is negligible
d) p² + 2pq + q² = 1 and p + q = 1
e) The maternal grandfather and maternal grandmother
a) What disease clearly shows the operation of natural selection in humans
b) What percent of true 45,X conceptuses result in a live birth
c) How long are BAC- and PAC- based genomic clones
d) What do plasmid vectors accept
e) What have the publicly-funded sequencing programmes relied on
a) Sickle-cell anaemia
b) Fewer than 1%
c) Usually between 100kb and 200kb
d) Accept small DNA fragments, usually less than 10kb
e) Relied on generation of tiling paths across each chromosome as the first stage of the process
a) How long are the inserts that YAC vectors take
b) If a ginger male cat mates with a black female cat, what coat colours will the kittens have, given that ginger and black are both alleles of the same X-linked gene
c) In a population of 100,000, there are 10 people diagnosed with an autosomal recessive condition (homozygous p/p). Assuming Hardy-Weinberg equilibrium, how many individuals will carry two wt copies (P/P) of the gene
d) When will a more severe phenotype be observed in an individual with aneuploidy
e) See image. Assuming that the CF carrier frequency in general population is 1/20, what is the risk of family member A being a carrier for CF
a) Up to 2Mb
b) Black males and tortoiseshell females
c) 98,010
d) When there are gene-rich chromosomes
e) 1
a) See image. Assume that the CF carrier frequency in the general population is 1/20, What is the risk of family member B being a carrier of CF
b) See image. Assume that the CF carrier frequency in the general population is 1/20, What is the risk to the unborn child ♢
c) What is a condition inherited through the maternal line caused by a point mutation in the gene encoding a subunit of NADH dehydrogenase
d) What is a disorder caused by an unstable CAG trinucleotide repeat within the coding sequence of a gene expressed in the brain
e) What is a syndrome caused by a deletion in chromosome 15 when inherited through the paternal line
a) 2/3
b) 1/120
c) Leber’s Hereditary Optic Neuropathy
d) Huntington disease
e) Prader-Willi syndrome
a) How to describe type I insulin-dependent diabetes (IDDM) as a genetic disorder
b) How to describe Williams syndrome as a genetic disorder
c) How to describe Achondroplasia as a genetic disorder
d) What is a condition associated with expansion of a triplet repeat in the intron of a gene
e) What rase cases can be caused by small deletions in the maternally-inherited copy of the UBE3B gene
a) A multifactorial disease showing the effects of both genetic and environmental variation
b) A genomic disorder involving deletion of a large segment of 7q
c) Mutations in the transmembrane region of the fibroblast growth factor receptor type 3 (FGFR3) gene
d) Friedreich ataxia
e) Angelman syndrome (AS)
a) What can be caused by rearrangements of the mitochondrial genome, including deletions and duplications
b) What is the cause of cellular pathology in Huntington’s disease
c) What is a major reason for variable penetrance of diseases caused by mitochondrial mutations
d) What is a reason why women carriers occasionally show symptoms of recessive sex-linked diseases
e) Name the deletion or addition of chromosomes from a cell or organism
a) Kearns-Sayre Syndrome (KSS)
b) Polyglutamine expansion
c) Heteroplasmy
d) X-inactivation
e) Aneuploidy
a) Name a category of genetic markers comprising repeats of 1-5 nucleotides in length
b) What may be used to identify nucleotide variations in the genome using enzymatic cleavage
c) What is a syndrome showing the importance of parental origin, associated with deletion of a region of paternal 15q11 in about 70% of cases. Commonly associated with distinctive facial features, eating disorders, and a short stature
d) What is a disease caused by a translated CAG triplet repeat expansion within the sequence of an X-linked hormone receptor
e) What is a syndrome arising from non-allelic recombination between related repetitive sequences interspersed along chromosome 22
a) Microsatellites
b) Restriction fragment length polymorphisms
c) Prader-Willi syndrome (PWS)
d) Kennedy disease
e) Velofacial cranial syndrome (VFCS)
a) What disease is a sex chromosome aneuploidy characterised by short stature, infertility, skeletal abnormalities, cardiac and renal abnormalities, and residual physical characteristics probably arising from foetal oedema
b) What is the disease with some common features that are short stature, lowered IQ, and cardiac defects. Individuals can survive into middle age, and show an increased incidence of early onset Alzheimer’s disease
c) What disease occurs with a microdeletion from the maternally-inherited chromosome 15. Children generally show poor coordination, epilepsy and mental retardation
d) What is a cell or individual with two different alleles at the same locus
e) What is a single gene trait demonstrating autosomal recessive inheritance
f) What is when pairs of genes do not demonstrate independent segregation
a) Turner syndrome
b) Down syndrome
c) Angelman syndrome
d) Heterozygote
e) Huntington’s disease
f) Linkage
