IBS Set 5 Quiz - Genetics

Gene regulatory elements that tell RNA polymerase to perform transcription.

Gene regulatory elements that tell DNA polymerase to perform transcription.

Gene regulatory elements that tell RNA polymerase to perform translation.

Gene regulatory elements that tell DNA polymerase to perform translation.

Recruitment of RNA polymerase

Recruit of DNA polymerase

Nucleosome

Chromosome

Telomere

Promoter region

Linker DNA

Core DNA

Histone octamer of H2A, H2B, H3 and H4.

Core DNA

Linker DNA

Histone tetramer of H2A, H2B, H3 and H4.

Absence of the male phenotype, leading to production of a female phenotype.

Absence of the female phenotype, leading to production of the male phenotype.

Upregulation of transcription of the X male chromosome

Inactivation of one of the X female chromosomes

Addition of an extra X chromosome in the male XY genotype

Autosomal dominant

Autosomal recessive

Autosomal recessive

Autosomal dominant

Parent(s) are carriers

Paternity (social father)

Mutation in sperm/egg

Albinism is autosomal recessive. This means that any child born to parents who both have albinism should also have albinism as there are no dominant traits in the parents as their genotypes are both homozygous recessive. The reason for the absence of albinism is because the mutated copies in the parents could differ in that the fathers two copies could inhibit a different enzyme in the metabolic pathway that leads to lack of pigment than the mothers. The child will inherit one copy from the father and one copy from the mother and therefore only 50% of each originally fully mutated pathway is inhibited and thus may still be able to produce sufficient melanin.

Albinism is autosomal dominant. This means that any child born to parents who both have albinism should also have albinism as there are no dominant traits in the parents as their genotypes are both homozygous dominant. The reason for the absence of albinism is because the mutated copies in the parents could differ in that the fathers two copies could inhibit a different enzyme in the metabolic pathway that leads to lack of pigment than the mothers. The child will inherit one copy from the father and one copy from the mother and therefore only 50% of each originally fully mutated pathway is inhibited and thus may still be able to produce sufficient melanin.

Phenylalanine hydroxylase

Carbonic anhydrase

Phenylalanine anhydrase

Tyrosine hydroxylase

Selection pressure

Genetic drift

Founder effect

Bottleneck

Ethnic group selection (HbS)

22

1

23

46

44

Growth

Repair

Tumour growth

Spermatogenesis

Oogenesis

Exchange of genetic information between homologous pairs of chromosomes which produces recombinant chromosomes.

The random assortment (lining up) of chromosomes that end up in the gametes.

Exchange of genetic information between homologous pairs of chromosomes which produces recombinant chromosomes.

The random assortment (lining up) of chromosomes that end up in the gametes.

First meiotic division

Second meiotic division

First division

Second division

One copy of the mother's C21 translocates to C14. Upon fertilisation, the future child will have inherited two copies from the mother (due to the translocated C21 to C14 as well as the normal C21 copy) and a copy from the father, making 3 copies of C21.

The mother is a carrier of three C21 copies which leads to the child inheriting two copies of C21 from the mother and one from the father.

C14 changes into C21 upon fertilisation, therefore two copies are inherited from mother/father and one other copy from the father/mother.

Copying errors during DNA replication

Spontaneous depurination

Background ionising radiation

Chromosomal non-disjunction

Splicing errors

The mismatch repair machinery helps to repair slippaged DNA (insertion/deletions) that escapes proofreading

The mismatch repair machinery helps to destroy cancer cells

The mismatch repair machinery helps to repair incorrectly paired DNA strands

Primer, Polymerase, Denaturation.

Polymerase, Primer, Denaturation.

Denaturation, Polymerase, Primer.