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AMNIOCENTESIS

if a fetus has a particular genetic disorder

Down syndrome, sickle cell disease, cystic fibrosis etc

women who are at risk should get this procedure done

CHORIONIC VILLUS SAMPLING

doctor is removing a few cells from the developing placenta

NUCHAL TRANSLUCENCY SCREENING

measures the fluid at the back of a baby’s neck

GENETIC COUNSELLING

Understand what the results of these tests will mean for you and your family

DNA (Deoxyribonucleic Acid)

final word in hereditary traits since it controls the structure of protein

depend on proteins called enzymes (ex: saliva)

arranged in a ladder like structure called double helix

Nucleotides such as phosphate group, pentose sugar and nitrogenous bases

Nitrogenous bases form rungs

Adenine and thymine

Guanine and Cytosine

phosphate group and pentose sugar form a backbone in DNA

Codons are bases arranged in sequences of triplets

must be paired with the correct base bonds

Coding can change the entirety of an organism

DNA replication

each cell has a copy of DNA that is present in the zygote

DNA replicates its chromosomes through DNA replication

when two daughter cells duplicate, they must contain the same genetic information as a parent cell

DNA to protein

protein fold into 3D shapes and are key regulators

sequences of nucleotides in DNA contain information

are put to work through proteins

RNA contains a replacement nitrogenous base thymine for URACIL (U)

Amino Acids is a type of protein

20 possible combinations of amino acids

20AA act like the alphabet

64 different combinations

production of proteins STOP and START codons

single strand of nucleotides and it occurs in a variety of lengths and shapes.

MRNA : is a type of RNA leaves the nucleus (VIA endoplasmic reticulum) with the code of protein

Nucleotides sequencing transcribed from DNA to mRNA, this is a genetic message

Mutations

caused by: errors throughout cell division, replication, transcription and external agents

Possibility on not passing to the offspring but can be dangerous for coming generations

gamete cells

contains 1/2 number of chromosomes = haploid (n)

23+23=2N (46) a fertilize egg

Sex cell including sperm and Ova (egg) cells

ova located in the ovaries

During ovulation ovum is released and transported to the fallopian tube

sperm located in testes

homologues

each position of the gene is in the same position as a homologue

homologues pairs (Tetrads) carry genes controlling an inherited trait

pair of chromosomes (maternal, paternal)

Karyotype is the display of human chromosomes

one homologue comes from the father and the other comes from the mother

somatic cells

contain a normal amount of chromosomes (46)

diploid # = 2N

body cells

skin cells, brain cells etc

used to fertilize an egg outside of the females body and egg combined in the laboratory with the sperm

therapeutic cloning

producing genetically identical cells to help treat diseases if needed

reproductive cloning

reproducing genetically identical organisms

used to produce medical proteins or treatments

beneficial to our society in finding ways to prevent or to cure diseases

stem cells

are cells in our body that can specialize in different parts of our body

Preimplantation genetic diagnosis

procedure used prior detect any genetic disorders before implantation

DOWN’S SYNDROME

TURNER’S SYNDROME

one of the X chromosomes is missing or altered

KLEINFELTER’S SYNDROME

there is an extra X chromosome for a male

Subtopic

Meiosis 1: will cross over genetic information between chromosome pairs + reduce chromosome number in half

interphase (preparation of meiosis)

chromosomes replicated (s phase)

duplicate chromosomes with 2 identical sister chromatids

Prophase 1

condensed

synapsed the process of homologue chromosomes creating a tetrad

Metaphase 1

shortest phase where independent assortment occurs

tetrads align on the interphase plate

genetic information is shared

Anaphase 1

homologue chromosomes split to each side of the poles

sister chromatids attach to the centromere

Telophase 1

each pole now has a haploid set of chromosomes

Meiosis 2: similar to mitosis (cell division)

Prophase (II) : preparing for the separation

metaphase (II): Sister chromatids are splitting apart from metaphase plate (II)

Anaphase (II): contracting to each poles

telophase (II): nuclei forms and cytokenesis occurs

In the end 4 haploid daughter cells are produced

Monohybrid crosses - 1 trait crosses

complete dominance - one allele is not completely dominant

(blending of the 2)

incomplete dominance -neither alleles are dominant but are both expressed

produces a new phenotype

complete dominance is 1 allele is always dominant over the other

Dihybrid crosses - shows the possible offspring for 2 traits

mendelian ration 9:3:3:1

Mendel and the pea

beginning of learning about inheritance traits

the pea was a good observant since it was readily available and reproduction was controllable

study inheritance traits

homozygous/Pure inheritance

having the same alleles for a trait

Heterozygous/ hybrid inheritance

having 2 alleles (dominant and recessive) for a trait for

phenotype: the appearance of a trait in an organism

Genotype: genetic makeup of an organism

allele

Recessive alleles are represented by lower case

dominant alleles are descried using capital letter