Genetics 311 Lecture 3 notes

What is a chromosome?

Parts
Tips – telomeres (regions of repetitive DNA sequence that exist to provide protection to the
chromosome. These telomeres act as buffers for the degradation during cell division.)
Chromosome – Shorter arm: P-arm, Longer arm: Q-arm
Centromere – still DNA and highly compacted chromatin using specialised histone proteins.

Chromosomes of 3 different sizes: Metacentric – centromere towards the centre of the

chromosome
Acrocentric – Centromere is towards one end
Telocentric – Centromere is at the end of the chromosome.

Ploidy (n) – referes to the number of copies if every chromosomes. E.g. haploid (n), diploid
(2n), triploid (3n)

Chromosomes are comprised of a mixture of protein and DNA. The histones help compact
the DNA. The compaction factor is immense.

Chromosome comprised of one chromatid and then be duplicated into two chromatids into
the iconic x chromosome shape. One chromosome made of 2 sister chromatids.
Mitosis or meiosis splits up the chromatids and produces 2 single chromatid sister
chromosomes.
Sister chromatids have the exact same alleles.

Interphase – represents everything that isn’t the ‘M’ phase.

G1 phase – Phase where cell is undergoing regular duties
S phase – cell preparing to divide. DNA duplication occurs
G2 Phase – cell is still metabolically active, but is getting the cell ready for ‘M’ phase
Throughout the process of mitosis, the ploidy of the cell NEVER CHANGES. Result is two
daughter cells with the exact same genetic content than the mother cell.

Meiosis – Homologous chromosomes come together at the synaptonemal complex. This is

where crossing over occurs?

Sex Linkage

Homogametic – Matching pair of sex chromosomes (XX)

Heterogametic – no matching pair (XY)

Some genes are hemizygous – genes that only have one copy of a gene. E.g. males
expressing a gene on the Y chromosome won’t be expressed in the X chromosome.
Testing for sex linkage – White eyed fly mutants.
Started with true breeding wildtypes. Wild type red eyes being crossed with a male that has
a mutation for white eyes. Both are homozygous pure bread. F1 cross gives two red-eyed,
showing that the white-eyed mutation is recessive. Shows a 3:1 ratio, however all females
have red eyes, and males are split 50:50 of red-eyed to white-eyed.

Reciprocal cross – standard cross used to test sex linkage. A different F1 pattern emerges.
Ratios that emerged are different from traditional mendelian crosses. Looking at the cross
as if the gene is on the X chromosome (X+/X+) (XW/X)

Human Pedigree Analysis

Our way of understanding patterns of inheritance for humans

Test crossing humans is not ethical. Instead of looking at future generations, we look back
through family trees and medical history. This is called Pedigree Analysis.

Propositus – First member of a family who comes to the attention of a geneticist.

3:1 ratio may not be observed as people may not have 4 offspring.

Autosomal recessive traits –

1. individuals that have the trait often come from parents that don’t.
2. If both parents have the trait, ALL children will have it. Only dominant traits are
being passed down,