Reproduction and Genetics (intro)
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Human Reproduction (basic) 20 questions
State what is meant by the term gamete, and name the male and female gametes in humans.
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A gamete is a sex cell (reproductive cell) that joins with another gamete during fertilisation to form a new individual. Each gamete carries half the normal number of chromosomes.
The male gamete is the sperm (spermatozoon); the female gamete is the egg cell (ovum).
The diagram shows a simplified front view of the human female reproductive system.
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State the approximate length of a full-term human pregnancy, and the approximate length of an average menstrual cycle.
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A full-term human pregnancy lasts about 40 weeks (around 9 months), counted from the first day of the last menstrual period.
An average menstrual cycle lasts about 28 days, although this varies between individuals (typically 21–35 days).
The diagram shows a simplified side view of the human male reproductive system.
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Fertilisation is the joining of a sperm cell and an egg cell to form a new individual.
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Twins can form in two different ways.
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Doctors estimate a pregnant woman's due date by adding 40 weeks to the first day of her last menstrual period (LMP), since ovulation and fertilisation normally happen roughly 14 days after the start of a 28-day cycle.
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A student wants to investigate whether the age at which the pubertal growth spurt begins differs between boys and girls, by surveying students at their school.
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A student hypothesises that people who do regular intense exercise tend to have a longer average menstrual cycle length than those who do not.
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| Group | Number of mothers | Mean birth weight (kg) |
|---|---|---|
| Smokers | 10 | 2.9 |
| Non-smokers | 10 | 3.4 |
A researcher compared the average birth weight of babies born to 10 mothers who smoked during pregnancy with 10 mothers who did not, all recruited from a single small clinic in one town.
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| Sex | Average age puberty begins (years) | Average age of peak growth spurt (years) |
|---|---|---|
| Girls | 10 | 12 |
| Boys | 11 | 14 |
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| Day of cycle | 1 | 7 | 14 | 21 | 28 |
|---|---|---|---|---|---|
| Oestrogen level (units) | 2 | 5 | 10 | 4 | 2 |
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| Animal | Human | Elephant | Dog | Mouse |
|---|---|---|---|---|
| Average gestation (days) | 280 | 640 | 63 | 20 |
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| Mother | 1 | 2 | 3 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|
| Cigarettes per day | 0 | 5 | 10 | 15 | 20 | 0 |
| Birth weight (kg) | 3.4 | 3.2 | 3.0 | 2.8 | 2.6 | 2.1 |
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| Decade | 1980s | 1990s | 2000s | 2010s |
|---|---|---|---|---|
| Twin births per 1000 births | 19 | 24 | 30 | 33 |
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| Hospital | A | B | C | D |
|---|---|---|---|---|
| Number of births recorded | 500 | 40 | 480 | 510 |
| Mean gestation length (days) | 279 | 291 | 280 | 278 |
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| Year | 1990 | 2000 | 2010 | 2020 |
|---|---|---|---|---|
| Average sperm count (million/mL) | 80 | 68 | 55 | 47 |
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| Outcome | Before programme | After programme |
|---|---|---|
| Teenage pregnancy rate (per 1000) | 30 | 18 |
| Reported condom use (%) | 45 | 68 |
A school district introduced a comprehensive sex education programme covering reproduction, contraception, and consent. The table shows data collected before and after the programme began.
Discuss one benefit and one drawback of the programme, using the data to support your discussion.
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Benefit: The teenage pregnancy rate fell substantially, from $30$ to $18$ per $1000$, and reported contraceptive (condom) use rose from $45\%$ to $68\%$. This means fewer teenagers are likely to face the health risks and disruption to education associated with an unplanned early pregnancy, and more are protecting themselves during sexual activity.
Drawback: Delivering a comprehensive programme requires significant teacher training, curriculum time, and funding, which must be taken from other parts of the timetable. In addition, reported contraceptive use, while much improved, is still not universal at $68\%$, meaning a substantial number of students may remain at risk of unplanned pregnancy or sexually transmitted infection without further improvement.
| Maternal age (years) | Under 35 | 35–37 | 38–39 | 40+ |
|---|---|---|---|---|
| Live birth rate per IVF cycle (%) | 32 | 25 | 15 | 5 |
IVF (in vitro fertilisation) is a fertility treatment in which eggs are fertilised with sperm outside the body before an embryo is placed in the uterus. The table shows how the chance of a live birth per IVF cycle changes with the mother's age.
Discuss one benefit and one drawback of IVF as a fertility treatment, referring to the data.
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Benefit: IVF gives people who cannot conceive naturally the chance to have a genetically related child. The data shows this chance is highest for younger mothers ($32\%$ per cycle under $35$), so many people can realistically expect success, especially if they start treatment while younger.
Drawback: Success rate falls sharply with age, down to just $5\%$ per cycle at $40$+, meaning many older patients need multiple costly cycles, each involving hormone injections and a minor surgical procedure, with no guarantee of success. The emotional and financial cost of repeated unsuccessful cycles can be considerable, and IVF is not affordable or accessible to everyone.
Non-invasive prenatal testing (NIPT) can screen a fetus's DNA from a sample of the mother's blood for certain chromosomal conditions, such as Down syndrome, early in pregnancy.
Evaluate the impact of this technology, discussing both a benefit and a concern it raises.
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Benefit: NIPT can detect certain chromosomal conditions from a simple maternal blood sample as early as $10$ weeks into pregnancy, without the small risk of miscarriage carried by more invasive tests such as amniocentesis. This gives parents earlier, safer information to prepare for their child's needs or to make informed decisions about their pregnancy and medical care.
Concern: Because the test provides very personal and sensitive genetic information early in a pregnancy, it raises ethical concerns about how the information might be used — including concern that it could increase pressure on parents to end pregnancies for conditions that would still allow the child a full and meaningful life. There are also concerns about the cost of the test and its availability differing between families and countries, which can make this information accessible to some parents but not others.
Variation and Inheritance (intro) 20 questions
State what is meant by variation, and give one example each of continuous and discontinuous variation in humans.
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Variation is the differences that exist between individuals of the same species.
Continuous variation can take any value within a range (e.g. height or body mass). Discontinuous variation falls into distinct, separate categories with no in-between values (e.g. blood group — A, B, AB or O).
Define the following terms used in genetics: chromosome, gene, and allele.
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A chromosome is a thread-like structure made of tightly coiled DNA, found in the nucleus of a cell, that carries genetic information.
A gene is a short section of DNA (found on a chromosome) that carries the instructions/code for a particular characteristic.
An allele is a different version of the same gene (e.g. the gene for seed colour might have a 'green' allele and a 'yellow' allele).
Explain the difference between genotype and phenotype, and between a dominant and a recessive allele.
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The genotype is the genetic make-up of an organism (the alleles it carries, e.g. $Rr$). The phenotype is the observable characteristic that results (e.g. round seeds).
A dominant allele is one whose characteristic is expressed in the phenotype whenever it is present, even with only one copy. A recessive allele is only expressed in the phenotype when two copies are present (i.e. no dominant allele is present).
In pea plants, the allele for round seeds ($R$) is dominant over the allele for wrinkled seeds ($r$). A pea plant with genotype $Rr$ is crossed with a pea plant with genotype $rr$.
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| R | r | |
|---|---|---|
| r | Rr | rr |
| r | Rr | rr |
The parent $Rr$ contributes gametes $R$ and $r$; the parent $rr$ contributes only $r$ gametes. Combining these gives offspring genotypes $Rr$, $Rr$, $rr$, $rr$.
A gene has two alleles, $B$ (dominant, brown fur) and $b$ (recessive, white fur). Three rabbits have genotypes $BB$, $Bb$, and $bb$.
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Variation between individuals can be caused by genetic factors, environmental factors, or a combination of both.
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In pea plants, purple flowers ($P$) are dominant over white flowers ($p$). Two heterozygous plants, both with genotype $Pp$, are crossed.
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| P | p | |
|---|---|---|
| P | PP | Pp |
| p | Pp | pp |
Genotype ratio: $1\,PP : 2\,Pp : 1\,pp$.
A student wants to investigate whether hand span shows continuous variation within their class, by measuring every student.
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A student wants to find out whether earlobe attachment (attached or free) and height both show the same type of variation.
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| Condition | Shade (cutting 1) | Shade (cutting 2) | Sun (cutting 1) | Sun (cutting 2) | Sun (cutting 3) |
|---|---|---|---|---|---|
| Height after 4 weeks (cm) | 12 | 15 | 22 | 24 | 21 |
A student grew 5 genetically identical cuttings from the same parent plant. Two were grown in a shaded spot and three in direct sunlight, and their final heights after 4 weeks were recorded.
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| Blood group | O | A | B | AB |
|---|---|---|---|---|
| Number of students | 12 | 9 | 5 | 2 |
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| Student | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 |
|---|---|---|---|---|---|---|---|---|
| Height (cm) | 152 | 148 | 161 | 155 | 158 | 150 | 163 | 157 |
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| Phenotype | Green | Yellow | Total |
|---|---|---|---|
| Number observed | 58 | 22 | 80 |
A student counted seed colour among 80 offspring from a cross between two heterozygous ($Gg$) pea plants, where green ($G$) is dominant over yellow ($g$).
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| Family member | Parent 1 | Parent 2 | Child 1 | Child 2 | Child 3 |
|---|---|---|---|---|---|
| Cystic fibrosis? | No | No | Yes | No | Yes |
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| Person | 1 | 2 | 3 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|
| Height (cm) | 145 | 152 | 149 | 158 | 151 | 147 |
| Number of fingers | 10 | 10 | 9 | 10 | 10 | 10 |
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| Height (cm) | 140–145 | 145–150 | 150–155 | 155–160 | 160–165 |
|---|---|---|---|---|---|
| Number of students | 3 | 7 | 12 | 6 | 2 |
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| Experiment | 1 | 2 | 3 | Combined |
|---|---|---|---|---|
| Total offspring | 20 | 20 | 20 | 60 |
| Purple flowers observed | 12 | 18 | 13 | 43 |
Three separate experiments each crossed two heterozygous purple-flowered pea plants, where the expected phenotype ratio is $3$ purple : $1$ white (i.e. $75\%$ purple).
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| Before selective breeding | After several generations of selective breeding | |
|---|---|---|
| Average yield (tonnes/hectare) | 4.2 | 7.8 |
| Genetic variation in population | High | Low |
Farmers have used selective breeding for many generations to increase the yield of a wheat crop, by always breeding from the highest-yielding plants. The table shows data before selective breeding began and after several generations.
Discuss one benefit and one drawback of this selective breeding programme, using the data given.
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Benefit: Yield increased substantially, from $4.2$ to $7.8$ tonnes/hectare — an increase of about $86\%$. This means significantly more food can be produced from the same area of farmland, which is important for feeding a growing population.
Drawback: The table shows genetic variation in the population has fallen from high to low. Because almost all the wheat now shares very similar genes, the whole crop is much more vulnerable to being wiped out by a single new disease, pest, or change in climate that this narrow gene pool cannot resist — there is little genetic variation left for natural selection to act on to produce resistant survivors.
Genetic testing can identify whether a person carries the recessive allele for certain inherited conditions, such as cystic fibrosis, even if they show no symptoms themselves.
Discuss one benefit and one concern of this technology for couples planning to have children.
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Benefit: If both partners are tested and found to be carriers of the same recessive condition, they can use this genetic information to make informed decisions before starting a family — for example, seeking genetic counselling, considering prenatal testing, or being prepared to arrange specialist medical care immediately after birth, all of which can improve outcomes for an affected child.
Concern: Genetic test results are highly personal and sensitive information; there are concerns about privacy, such as who else might gain access to the results, and about the emotional impact on a couple of learning they are carriers, which can create anxiety or difficult decisions about starting a family — even though being a healthy carrier of a single recessive allele does not affect the carrier's own health at all.
Genetic engineering can be used to transfer a gene from one species into a crop plant's genome. For example, a gene that produces a natural insect-repelling protein has been inserted into some maize (corn) varieties, so the plant no longer needs to be sprayed with as much insecticide to protect it from pests.
Evaluate the impact of this technology, discussing both a benefit and a concern it raises.
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Benefit: Because the modified maize produces its own natural pest resistance, farmers need to spray far less chemical insecticide on the crop. This reduces costs for farmers, reduces harm to helpful insects such as bees that are not the target pest, and reduces the amount of chemical residue that ends up in the environment and water supply.
Concern: Introducing new genes into crop species raises concerns about long-term ecological effects, such as the modified gene spreading to wild relative plants through cross-pollination, or insect pests eventually evolving resistance to the inserted protein — in the same way that overusing an antibiotic leads to resistant bacteria. There are also concerns among some consumers and countries about the safety and labelling of genetically modified food, which is why regulations around GM crops vary widely around the world.