Practice Flashcards
Define a gene.
Track your progress — Sign up free to save your progress and get smart review reminders based on spaced repetition.
All Flashcards in Topic 4.8
Below are all 54 flashcards for this topic. Sign up free to track your progress and get personalized review schedules.
4.8.110 cards
Define a gene.
A **length of DNA that codes for one characteristic** (e.g. the gene for stem length).
Define an allele.
One particular **version of a gene** (e.g. a 'tall' allele and a 'short' allele).
Define genotype.
The **alleles an organism carries** for a gene — written as a pair of letters, e.g. **Tt**.
Define phenotype.
The **observable characteristic** an organism shows, produced by its genotype (e.g. 'tall').
What is a dominant allele, and how is it written?
An allele whose effect **shows with only one copy**; written as a **capital letter** (e.g. T).
What is a recessive allele, and how is it written?
An allele whose effect **shows only with two copies**; written as a **small letter** (e.g. t).
What does homozygous mean? Give examples.
Having **two of the same allele** for a gene — e.g. **TT** (homozygous dominant) or **tt** (homozygous recessive).
What does heterozygous mean? Give an example.
Having **two different alleles** for a gene — e.g. **Tt**.
Why is a recessive allele hidden in a heterozygote?
The **dominant allele is expressed and masks** the recessive one, so the recessive characteristic is not shown.
When does a recessive phenotype appear?
Only in a **homozygous-recessive** organism (e.g. tt) — one with **no dominant allele** to mask the recessive one.
4.8.27 cards
What is a monohybrid cross?
A cross that follows the inheritance of **one gene** (with two alleles) from parents to offspring.
Why does each gamete carry only one allele of a gene?
Because the two alleles **segregate** during meiosis — one goes into each gamete.
What is the difference between genotype and phenotype?
**Genotype** = the alleles you carry (e.g. Bb); **phenotype** = the observable characteristic those alleles produce.
What genotype and phenotype ratios come from Bb × Bb?
Genotype **1 BB : 2 Bb : 1 bb**; phenotype **3 dominant : 1 recessive**.
Two carrier parents — what is the chance of an affected child?
**1/4 (25%)** each pregnancy, because only the homozygous-recessive (e.g. dd) cell is affected.
Why can two unaffected parents have an affected child?
The disease allele is **recessive**: both parents are unaffected **carriers** (Dd), and if both pass on d the child is **dd** and affected.
How do you turn a Punnett-grid ratio into a probability?
Each of the four cells is equally likely, so count the matching cells out of 4 (e.g. **1 in 4 = 1/4 = 25%**).
4.8.39 cards
Define incomplete dominance.
Neither allele is fully dominant, so the **heterozygote shows a new, intermediate (blended)** phenotype (e.g. red × white → **pink**).
Define codominance.
Both alleles are **fully expressed at the same time** in the heterozygote — you see **both** phenotypes together (not a blend).
What are multiple alleles?
A gene with **more than two** alleles in the population (e.g. ABO has **I^A, I^B and i**), though each individual still carries only **two**.
F2 phenotype ratio from two pink (incomplete-dominance) flowers?
**1 red : 2 pink : 1 white** — the phenotype ratio equals the 1 : 2 : 1 genotype ratio because every genotype is visible.
How do you tell incomplete dominance from codominance?
**Incomplete dominance** = a single **blended** phenotype. **Codominance** = **both** phenotypes shown **together** (side by side).
Why are codominant/incomplete alleles written as capitals with superscripts (e.g. C^R, C^W)?
Because **neither allele is recessive**, so neither should be written lower case — superscripts keep them equal.
Which ABO alleles are codominant, and which is recessive?
**I^A and I^B are codominant** (both expressed → group AB); both are **dominant to i**, which is **recessive** (group O = i i).
Give the genotype(s) for each ABO blood group.
A = I^A I^A or I^A i; B = I^B I^B or I^B i; **AB = I^A I^B**; **O = i i**.
Why is ABO blood group an example of discrete variation?
Each genotype maps to one of only **four separate groups** (A, B, AB, O) with **no in-betweens** — distinct categories, not a continuous range.
4.8.49 cards
What are the sex chromosomes in a human female and a human male?
**Female = XX**, **male = XY**.
What are autosomes?
The **22 pairs of chromosomes that are not the sex chromosomes** — the same in males and females.
Which parent's gamete determines the sex of a baby, and why?
The **father's sperm** — the egg always carries X, but a sperm carries **X or Y** (X→girl, Y→boy).
What does 'sex-linked' mean?
The gene is carried on a **sex chromosome (usually the X)**, so its inheritance is tied to the offspring's sex.
How do we write the alleles of an X-linked gene?
**On the X** — e.g. **Xᴮ** (dominant) and **Xᵇ** (recessive); the **Y has no matching allele**, written just **Y**.
Why is an X-linked recessive condition more common in males?
Males have **only one X** and the **Y has no matching allele**, so a **single recessive allele shows**; a female needs it on **both** X chromosomes.
What is a carrier (for an X-linked recessive condition)?
An **unaffected female (XᴮXᵇ)** who has one recessive allele, masked by the dominant allele on her other X; she can still pass it on.
Deduce the possible genotypes of an unaffected female for colour blindness.
**XᴮXᴮ (homozygous dominant)** or **XᴮXᵇ (carrier)** — you usually can't tell which from her phenotype.
In a carrier mother (XᴮXᵇ) × unaffected father (XᴮY) cross, who can be colour-blind?
Only **sons** — about **half** are colour-blind (XᵇY); **no daughter is affected**, though half are carriers.
4.8.510 cards
In a pedigree, what shapes are used for males and females?
**Square = male**, **circle = female**.
In a pedigree, what does a filled (shaded) symbol mean?
The person is **affected** — they show the condition. A clear symbol means unaffected.
What is a carrier?
An **unaffected** person who carries one copy of a recessive allele (e.g. genotype Dd) and can pass it on.
How can you tell from a pedigree that a condition is recessive?
**Two unaffected parents have an affected child** — a dominant allele cannot hide in an unaffected parent.
How can you tell from a pedigree that a condition is dominant?
The trait appears in **every generation** (no skipping) and affected children usually have an **affected parent**.
How does a pedigree show an allele is NOT X-linked?
A father gives his **X to every daughter** and his **Y to every son** — so an **affected son** or an **unaffected daughter** of an affected father means the allele is **autosomal**.
An affected father passes which sex chromosome to a son, and which to a daughter?
His **Y** to a son; his **X** to a daughter.
An unaffected woman has a child with an autosomal recessive condition. What is her genotype?
She must be a **carrier (Dd)** — heterozygous.
What is the genotype of someone affected by an autosomal dominant condition (allele D)?
**DD or Dd** — at least one dominant D allele.
What do the Roman numerals (I, II, III) on a pedigree show?
Each **generation**, oldest at the **top**.
4.8.69 cards
What is a karyogram?
A chart of a cell's chromosomes **arranged in homologous pairs by size** (and banding pattern).
What three things can a karyogram tell you?
The **chromosome number**, the **sex** (XX/XY), and whether any chromosome is **extra or missing**.
How do you read the SEX from a human karyogram?
Look at the **last (23rd) pair**: **XX = female**, **XY = male** (a large X next to a small Y).
How would you compare another species' karyogram with a human one?
Compare the **chromosome number**, the **relative sizes** of the chromosomes, and the **banding pattern**.
What is a DNA profile (DNA fingerprint)?
A pattern of **DNA bands** that is almost **unique to an individual**, used to identify people and their relatives.
State the golden rule for reading a parentage DNA profile.
**Every band in the child must match a band in one of its two parents** — a candidate missing a band is ruled out.
How do you identify a father from a paternity DNA profile?
Remove the bands the child shares with the **mother**; the **true father must have all the remaining bands**.
Name three ways sexual reproduction generates variation.
**Crossing over** and **independent assortment** in meiosis, plus **random fertilisation**.
Why is every offspring (except identical twins) genetically unique?
Meiosis makes genetically different **gametes**, and **random fertilisation** combines two of them into a new mix of alleles.
Topic 4.8 study notes
Full notes & explanations for Inheritance
Biology exam skills
Paper structures, command terms & tips
Want smart review reminders?
Sign up free to track your progress. Our spaced repetition algorithm will tell you exactly which cards to review and when.
Start Free