Term Definition

Genotype The genetic set of alleles of an organism

Phenotype The characteristics expressed in an organism

Outline the relationship between Mendel’s Law of Segregation and

meiosis
- Law of Segregation states that genes occur in pairs called alleles
- Alleles are separated during meiosis I
- Genes segregate independently so that one gamete receives one gene independently of the
other gamete receiving the other
- Chromosomes with alleles on them replicate and undergo meiosis
- Each gamete contains only one copy of each allelic pair

Explain the relationship of Mendel’s law of Segregation and independent

assortment with meiosis
- Law of segregation states that for a pair of alleles, each gamete receives only one of the alleles
- Meiosis has two divisions
- Cells go from diploid to haploid
- Law of independent assortment states that the segregation of alleles of one gene is independent
of the segregation of the alleles of another gene
- Alleles of a gene are carried on homologous chromosomes
- Homologous line-up at metaphase I
- Homologous of one chromosome line-up independently of homologues of other chromosomes at
metaphase I
- Homologues separate at anaphase I
- Homologues of different chromosomes separate randomly at anaphase I
- Haploid cells have a random assortment of homologues
- Only unlinked genes assort independently

Describe the inheritance of ABO blood groups

- One gene determines blood groups
- Genes have different forms are called alleles
- There are three alleles of the gene for blood groups
- Blood groups are an example of the effect of multiple alleles
- Each individual has two alleles of the gene but only one is passed to offspring
- Alleles that are codominant both affect the phenotype in a heterozygote
- Alleles IA and IB are codominant
- I is recessive to IA and IB
- IA IA and IAi both give blood group A
- IB IB and IBi both give blood group B
- IA IB give blood group AB
- ii gives blood group O
- Example of a cross involving ABO blood groups
Explain how a base substitution mutation, such as GAG to GTG, can lead
to a disease like sickle-cell anaemia
- Change in the codon of the mRNA
- tRNA with a different anticodon attaches
- If codon changed glutamic acid replaced by valine
- Distorted haemoglobin molecule alters red blood cell shape, reduces ability to carry oxygen

Outline the inheritance of a named sex-linked condition in humans

- Genes that are located on just one of the sex chromosomes
- Genes present on the X chromosome are absent from the Y chromosome
- Colour blindness is a recessive X-linked condition
- Sex linked conditions tend to be more commonly expressed in males
- Female can be homozygous or heterozygous
- Affected males have only one copy of the gene
- Heterozygous females can have carrier daughters
- For a female to be affected the father must be affected

Explain how females but not males can be barriers of some recessive
alleles
- Females are carriers when they have dominant and recessive alleles together
- Recessive allele in carrier does not affect phenotype as dominant allele also present
- Gene is located on the X chromosome
- Females are XX so can have dominant and recessive alleles
- Males are XY so only dominant or recessive allele
- Haemophilia/Red-green colour blindness

Explain why many sex linked diseases occur more frequently in men than
in women
- Haemophilia is a sex linked disease
- Caused by recessive allele
- On the X chromosome
- XH and Xh
- Females are XX and males are XY
- Females have two alleles of the gene and males only one
- Allele causing the disease is rare
- Probability of females inheriting rare allele twice as low
- Calculation of squaring the gene frequency
- Female would have to inherit the allele from her father
- Who would have suffered from the disease
- So females can carry the gene but still be normal
- But males with the gene will have the disease

Explain how males inherit haemophilia and how females can become
carriers for the condition
- Haemophilia is due to a recessive allele
- Haemophilia is sex linked
- Allele is on the X chromosome
- Females are XX and males are XY
- Y chromosomes do not have the allele
- Males inherit their X chromosome from their mother
- Males have only one copy so allele is not masked
- Males have a 50% chance of haemophilia if the mother is a carrier

- Carrier is heterozygous for the gene

- Dominant allele masks the recessive allele
- Females inherit one X chromosome from father and one from mother
- Haemophiliac males have carrier daughters
- Haemophilia allele could have been inherited from either parent

Explain the inheritance of colour blindness

- Colour blindness caused by recessive allele
- Gene located on X chromosome
- Xb is allele for colour blindness and XB is allele for normal colour vision
- Male are XY
- Male has only one copy of gene located on X chromosome
- X chromosome comes from female parent for males
- Any male receiving allele from other will express that trait
- XbY is genotype for colour blind male
- Many more males have colour blindness than females
- Female will express colour blindness only is is homozygous recessive
- Heterozygous female is a carrier
- Colour blind female could be born to colour blind father and carrier mother

What is a genetic test cross

- Testing a suspected heterozygote by crossing it with a known homozygous recessive

How to interpret a pedigree chart

- If there is a much larger number of males than females who are affected, then the disorder is
sex linked
- If there is a 50/50 ratio between males and females who are affected, then the disorder is
autosomal
- If the disorder is dominant, at least one of the parents must have the disorder
- If the disorder is recessive, the two parents do not show the disorder, as the parents are carriers

Autosomal recessive
- Appears in both sexes with equal frequency
- Trait tend to skip generations
- Affected offspring are usually born from unaffected parents
- When both parents are heterozygous, approximately 25% of the progeny will be affected

Autosomal dominant
- Appears in both sexes with equal frequency
- Both sexes transmit the trait to their offspring
- Does not skip generations
- Affected offspring must have an affected parent
- When one parent is affected and the other is unaffected, 50% of the progeny will be affected
X-linked dominant
- Both females and males are affected, often more females than males
- Does not skip generations
- Affected sons must have an affected mother
- Affected daughters can have either an affected mother or an affected father

X-linked recessive
- Both females and males are affected, more males than females
- Can skip generations
- Affected daughters must have an affected father
- Affected sons can have either an affected mother or an unaffected mother
- Affected fathers can have carrier daughters

Y-linked dominant
- Only males are affected
- It is passed from father to all sons
- It does not skip generations