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30 Cards in this Set

  • Front
  • Back


the observable, physical characteristics

- produced by the genotype and environmental influences

e.g Down's syndrome

- hair colour, executive function abilities, short, tall, psychiatric condition etc

Every human cell in the body except_____ has nucleus

Red blood cells

Each cell has a nucleus, and each nucleus contains how many chromosomes?

46 chromosomes

arranged in 23 pairs

- a chromosome in each pair comes from each parent

Chromosomes are filled with...

tightly coiled strands of DNA

Genes are...

segments of the DNA which contain the instructions to make proteins

Proteins are...

the building blocks of life.


Consist of chromatin


Chromatin is made up of

nucleic acids (DNA and RNA) and proteins

Chromosomes are only visible during...

cell division processes (mitosis and Meiosis)

- otherwise they unfold and uncoil into a diffuse network within the nucleus

Most cells contain 46 chromosomes

23 sets - one from mother and one from father in each pair

Each chromosome pair...

carries same type of genes - matching in size, shape and functions

Gametes (sex cells) contain how many chromosomes?

Sperm/egg cells contain 23 chromosomes each

What is a Karyotype?

Description of the chromosomal content of a cell:

- total count of chromosomes

- description of the sex chromosomes

Each parent contributes 23 chromosomes to the child

Autosomes (non-sex chromosomes) are numbered 1-22

Sex chromosomes are either X or Y

Females have

two copies of the X chromosome

Males have

X and Y

X chromosome

typically larger than Y

- has more genetic information

Kinds of Karyotype include...

- Male 46, XY

- Female 46, XX

-Male Down's Syndrome 47, XY + extra copy of chromosome 21

-Female Down's Syndrome 47, XX + chromosome 21

- Turner's syndrome (appear female)

*Klinefelter's syndrome

Down Syndrome

extra copy of chromosome 21

thus 47 instead of 46 chromosomes

1/1000 babies

most common genetic abnormality

Klinefelter's syndrome (XXY) - only affect males

Males have extra X chromosome

3 ways it can affect dev:

1) Physical - weaker muscles, reduced strength, sterility

2) Language 25-85% will have language difficulties

3) Social - males are more quiet, undemanding

Turner Syndrome

affects females

- short

- infertility

- don't go through puberty

What are the four bases of DNA?

A- Adenine

T- Thymine

G- Guanine


What are the based pairings?



What binds base pairings?


Primary structure of DNA is described by...

order of bases in 5-3 direction

DNA are 'anti-parallel strands' because...

a double stranded structure consisting of 2 nucleotides held together by hydrogen bonds between bases in OPPOSING strands.

Nucleotides are...

base+sugar+phosphate group

What is the LOCUS?

a sequence of DNA situated on specific region of the chromosome

Genes are...

sequences of DNA molecules (instructions for making proteins)

What are the protein types?


Hemoglobin (blood)

Insulin (pancreas)

Collagen (skin)

Keratin (hair)

Histones - package and order DNA into Nucleosomes

Actin and myosin



forms of genes