Chapter 16 Inheritance
Homologous chromosomes
Autosomes – non-sex chromosomes
Karyogram
Homologous chromosomes are a pair of
chromosomes in a diploid cell that have the same
structure as each other, with the same genes
(but not necessarily the same alleles of those
genes) at the same loci. 22 pairs. In a zygote,
one from the mother, one from the father
Sex chromosomes are non-matching X and Y
chromosomes that determine the sex of the
zygote.
A gene is a length of DNA that codes for a
particular protein or polypeptide.
An allele is a particular variety of a gene.
A locus is the position at which a particular gene is found on a particular
chromosome; the same gene is always found at the same locus.
Diploid – 2n, body cells
Haploid – n, gametes
The letters Hb stand for the locus of the haemoglobin gene, whereas the
superscripts A and S stand for particular alleles of the gene.
The alleles that an organism has form its genotype.
A genotype in which the two alleles of a gene are the same is said to be
homozygous for that particular gene. A genotype in which the two alleles of a
gene are different is said to be heterozygous for that gene.
The observable characteristics of an individual are called the person’s phenotype.
Chromosome pairs can be distinguished not only by size and shape but also the
distinctive banding pattern when stained.
Meiosis (reduction division)
Chromosome number is halved in gametes to prevent doubling of chromosomes
across generations
Also introduces genetic variation – independent assortment, crossing over,
fusion of gametes at random
In sexual reproduction, haploid gametes are made, following meiosis, from
diploid body cells. Each gamete contains one of each pair of chromosomes.
Therefore, each gamete contains only one copy of each gene.
Genetics
Codominance
Frequently, however, only one allele
has an effect in a heterozygous
organism. This allele is said to be the
dominant allele, whereas the one
that has no effect is recessive.
Test cross. A test cross always involves crossing an organism showing the
dominant phenotype with one that is homozygous recessive.
Blood groups
The four blood groups A, B, AB and O are all
determined by a single gene. Three alleles of
this gene exist, IA, IB, and I°. Of these, IA
and IB are codominant, whereas I° is
recessive to both IA and IB.
Sex chromosomes
The sex chromosomes differ from the autosomes in that the two sex
chromosomes in a cell are not always alike.
They do not always have the same genes in the same position, and so they are
not always homologous.
This is because there are two types of sex chromosome, known as the X and Y
chromosomes because of their shapes. The Y chromosome is much shorter than
the X, and carries fewer genes.
Mutations
Mutation – unpredictable change in genetic material of an organism
Gene mutation – change in structure of DNA molecule
Chromosome mutation – changes in the structure or number of whole
chromosomes in cell
Environmental factors affecting chance of mutaton
Radiation, UV, chemicals – mutagens
Types of gene mutations
Base substitution – when has no apparent effect it’s a silent mutation.
Because many amino acids have more than one triplet code so a base
substitution could still code for the same amino acid
Base addition (1 or more)
Base deletion (1 or more)
Base additions and deletions usually have a very significant effect because they
alter every set of 3 bases that follows them. They are said to cause frame
shifts
Sickle cell anaemia
*sickle cell trait and sickle cell anaemia. Sickle cell trait can cause problems
during e.g. strenuous exercise.
In a healthy person the β-globin polypeptide begins with the amino acid sequence
coded from the HbA allele, 6th amino acid being Glu (CTT)
In people with the HbS allele Glu (CTT) is replaced by Val (CAT)
When not combined with oxygen the haemoglobin becomes less soluble
Molecules stick together, form fibres inside RBC, RBC are pulled into a sickle shape.
Distorted RBC are less effective at transporting oxygen and become stuck in small
capillaries
Albinism
Melanin is missing from eyes, skin, hair.
Often poor and jerky vision, tendency to avoid bright light
Mutations at several loci may be responsible, but usually its an autosomal
recessive and homozygous individuals show albinism.
Mechanism
o Mutation in the gene for enzyme tyrosinase results in absence of tyrosinase
or presence of inactive tyrosinase in cells responsible for melanin production
` melanocytes
o Tyrosine -> DOPA -> dopaquinone -> melanin
o Tyrosine cannot be converted into DOPA and dopaquinone
o Tyrosinase is an oxidase, has 2 Cu atoms which bind an Oxygen molecule.
o Tyrosinase is a transmembrane protein found in melanocyte organelles `
melanosomes.
Huntington’s disease
Inherited as a dominant allele.
Chorea, mental deterioration ` loss of brain cells.
Mechanism
Mutation on chromosome 4 coding for the protein huntingtin
People who do not have HD have a segment made up of several repeats of
triplet bases of CAG
People with HD have a larger number of repeats of CAG. This is called a stutter
The more stutters, the earlier the condition appears.
