Patterns of inheritance

Introduction

Basics

Chi-squared test

Mutation

The cause of mutations

The effect of mutations

Sickle cell anaemia

Cystic fibrosis

Phenylketonuria (PKU)

Huntington’s disease

Sex linkage and the autosomal linkage

Investigating inheritance with model organisms

Down’s syndrome, Turner’s syndrome and Klinefelter’s syndrome

Chromosomal mutations

Introduction

Back in the day, Mendel crossed different varieties of pea plants to establish rules of inheritance. He didn’t know what we know today about genes and DNA. So what do we know, and what did he find out?

The entirety of genetic material in an organism is called a genotype. It can also refer to specific things, like a genotype for a certain trait in a given organism.

The genotype refers to the physical constitution of a little part of DNA. Its expression, however (that is what protein a gene encodes, and what that protein ends up doing in the organism) is a separate entity which is subject to environmental influence. This is called the phenotype.

Humans have 2 sets of chromosomes, so for each distinct chromosome e.g. chromosome 1, there are two copies. How do the same genes on both homologous chromosomes interact if they result in different phenotypes? which has priority?

If you crossed a green pea plant with a yellow pea plant, what colour would the offspring be? What about their offspring’s offspring?

This is precisely what you’ll be able to answer by the end of this topic.

Basics

Versions of the same gene that give rise to different phenotypes are called alleles. For example, the gene responsible for ear shape in a cat may have 2 alleles: pointy shape and oval shape.

One of these alleles may be expressed at the expense of another, where both are present together in a cat. Say that the oval shape allele is dominant while the pointy shape is recessive.

Because cats also have 2 copies of each chromosome (and therefore gene), these alleles are written as 2 letters.

If the gene for ear shape is abbreviated as E or e for ear, then the alleles would be:

E (dominant) for oval shape and

e (recessive) for pointy shape

These upper case – dominant, lower case – recessive notation rules are used universally. So what combinations may be present in a cat?

EE, ee or Ee

So what happens in crossing?

EE x ee gives rise to 4 combinations: Ee, Ee, Ee and Ee! 100% heterozygous where the cats will appear oval-ear shaped, yet also carry the recessive allele for pointy ears. Let’s do a second cross.

Ee x Ee gives rise to 4 combinations: EE, Ee, eE and ee. That’s 50% homozygous and 50% heterozygous. 3/4 will have oval ears while 1/4 will have pointy ears.

The first two examples are called homozygous because the same allele (E or e) is present twice, while the last example is heterozygous because different alleles (E and e) are present.

Now see what happened in Mendel’s pea plant experiments?

It’s also possible to have multiple….

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