DNA, genes, alleles, chromosomes
The genome is all of an organism's DNA. Chromosomes in the nucleus are long DNA molecules; a gene is a section of DNA that codes for a specific protein, and genes exist in alternative forms called alleles. DNA is a double helix held by complementary base pairs — adenine (A) with thymine (T), cytosine (C) with guanine (G) — so each strand templates the other and DNA copies accurately. Body cells are diploid (46 chromosomes, 23 pairs); gametes are haploid (23).
Mitosis vs meiosis
Mitosis produces two diploid daughter cells (46 in humans), genetically identical to each other and the parent; used in growth, repair, asexual reproduction and cloning. Meiosis is a reduction division producing four haploid cells (23) that are genetically different; it makes gametes only. Variation arises from crossing over and independent assortment in meiosis, plus random fertilisation. Hook: mitosis = mirror; meiosis = mix.
Monohybrid crosses, sex, selection
Dominant allele shows with one copy; recessive needs two (homozygous). Aa × Aa gives 1 AA : 2 Aa : 1 aa — phenotype 3 dominant : 1 recessive, so a recessive offspring is 1 in 4. Codominance: both alleles show in the heterozygote, written with superscripts (e.g. H^A, H^S). Sex: females XX, males XY, expected 1 : 1. Natural selection: mutation creates variation; individuals with a survival advantage reproduce more, pass on the allele, and its frequency rises over generations.
Drawn from real examiner reports.
Give the full mitosis/meiosis definition
For mitosis or meiosis, writing "cell division" and stopping scores nothing. Give all three: number of cells (two vs four), chromosome number (diploid/same vs haploid/half) and genetic outcome (identical vs different). Meiosis is used ONLY to make gametes — never for growth or repair. Spell the two words distinctly.
June 2023 Paper 1BR Q7(b)(i): candidates confused meiosis and mitosis (saying meiosis produces the embryo); spelling the two terms indistinctly lost marks.
One allele per gamete; label phenotypes
On genetic-cross questions, put exactly ONE allele in each gamete (not two). Use clearly distinct upper/lower-case letters — H/h or T/t, not C/c or S/s, which look alike in handwriting. Complete the 2×2 grid, then state the offspring PHENOTYPES and their ratio or probability — that is where the mark is, not the genotype grid alone.
June 2023 Paper 1BR Q9(b)(ii)-(v): "two alleles per gamete", ambiguous letters, and unlabelled phenotypes were repeatedly flagged.
Sex-linkage is not on the 4BI1 spec
Sex-linked inheritance is beyond 4BI1 and earns no credit — invoking it on a pedigree or Punnett question loses marks (only error-carried-forward is available). Deduce parental genotypes from the phenotypes given and use the exact allele letters stated in the question, not letters you introduce yourself.
June 2024 Paper 1BR Q8(a)(i): candidates who invoked sex-linkage received no credit; only error-carried-forward was available.
Natural selection: allele, not trait
Natural-selection marks need precise language. Mutation makes a new ALLELE (not a "characteristic" or "trait"); the advantaged REPRODUCE MORE (not just "survive" or "numbers increase"); the ALLELE is passed on and its frequency rises. "The trait is inherited" or "numbers go up" loses the marks, and mutation must be named.
June 2024 Paper 1BR Q8(a)(iii) and Q9(b): answers lost marks by saying "characteristic/trait" instead of "allele" and "numbers increase" instead of "reproduce more".
Dominant does not mean common
"Dominant" describes an allele expressed when only one copy is present (heterozygote) — it does NOT mean the allele is the most common in the population. A recessive allele can be far more common yet stay masked whenever a dominant allele is present. Keep genotype (alleles carried, e.g. Aa) separate from phenotype (what is observed).
Mutations often do not change phenotype
Many mutations have no phenotypic effect, for several reasons: the changed base may still code for the SAME amino acid; the mutation may lie in NON-CODING DNA; it may produce a RECESSIVE allele masked by a dominant one; or it may not affect the protein's ACTIVE SITE. Give at least two distinct reasons — "it does nothing" is not enough.
June 2024 Paper 2B Q5(b)(ii): candidates gave only the "same codon" idea; the mark scheme credited non-coding DNA, a masked recessive allele, or an unaffected active site.
Four-step genetic-cross layout
Lay every cross out in four steps: (1) parental genotypes (deduce from a pedigree if needed); (2) gametes, one allele each; (3) the 2×2 Punnett grid; (4) offspring phenotypes with ratio or probability. For Aa × Aa: 3 dominant : 1 recessive (1 in 4). Use XX/XY the same way.
Reading a pedigree
Two unaffected parents with an affected child means the condition is RECESSIVE and both parents are carriers (Aa); recessive conditions can skip generations. Deduce genotypes from the affected individuals first.
Describe vs explain; use the data
Check the command word: describe wants what happens; explain wants why (a mechanism — "because"). With genetics data, do not just quote numbers — state the ratio or probability you worked out and link it to the biology. A calculate question needs visible working and a value.
Chromosomes, genes and deoxyribonucleic acid (DNA)
The genome of an organism is all of its DNA. The nucleus of every body cell contains chromosomes — structures made of long deoxyribonucleic acid (DNA) molecules wrapped around proteins. A gene is a section of a DNA molecule that codes for a specific protein. Genes are carried on chromosomes, and each gene can exist in alternative forms called alleles, which are responsible for variation in inherited characteristics.
DNA structure (3.16B): DNA is a double helix — two strands wound around each other and linked by complementary base pairs. The four bases pair as follows: adenine (A) pairs with thymine (T), and cytosine (C) pairs with guanine (G). This complementary pairing means every strand acts as a template for copying.
| Feature | Detail |
|---|---|
| Shape | Double helix (two coiled strands) |
| Base pairing | A-T and C-G (complementary) |
| Diploid number (human body cells) | 46 chromosomes (23 pairs) |
| Haploid number (human gametes) | 23 chromosomes |
Precise two-element definitions (mark-scheme form):
Define mitosis.
State two differences between mitosis and meiosis. (2 marks)