Exam #4 Flashcards
o Diploid
– 2 parts, 2 each chromosomes - cell containing 2 homologous sets of chromosome 2 chromosomes on each type 2 copies chromosome # 1,2 etc 22 homologous pairs Xy – sex chromosomes
o Gene
Part of DNA molecule that governs a specific trait
o Alleles
An alternative form of a gene
Cellular genetics
- Traditional/mendelian genetics
Gene inheritance background
- monk working with pea plants
- mathematically worked out the manner in which traits (genes) were passed from one generation to the next
MENDEL’S EXPERIMENTS
Studied seven characteristics:
Seed color,seed shape, flower color, pod color, pod shape, flower position, stem height
- Yellow, green – 2 versions of each
Mendel started with true breeding plants and then crossed these with each other to find different offspring
- Same color with same color = same color true breeding
- start with true breeding – only white or purple
o Crossed them
All offspring had purple flowers First generation
• Crossed them with themselves F2 generation
o ¾ of plants have purple flowers and ¼ plants have white flowers
o Hundreds of plants
o Did all same traits – same relationships
- start with true breeding – only white or purple
Mendel’s Assumptions:
Each characteristic is governed by more than one factor
These factors are passed from one generation to the next
Only some of these factors are ever observed (expressed)
Gametes only carry one factor for each characteristic
Factor
- allele
MENDEL’S LAWS
Law of Segregation :
Law of Independent Assortment:
Law of Segregation :
Each trait (gene) has 2 factors (allele)
Factors segregate during reproduction
Only one factor for each trait ends up in the gametes
Fertilization gives each individual two factors
Law of Independent Assortment:
Each pair of factors (alleles) assorts independently of the others
o segregates itself independent of other factors
All possible combinations can occur in all the gametes
o could have short plants with white flower green seeds – 7 traits all assorted themselves independently – all combination on all those characteristics
Each of the two alleles found at the same locus
are dominant or recessive
Dominant alleles
are expressed regardless of the nature of the other allele (heterozygous)
Recessive alleles
are expressed only when both alleles are the same (homozygous)
Genetic notation
Dominant alleles are usually written as a capital letter
Recessive alleles are usually written as a small case letter
These can be written together to denote the genotype of the individual
Modern Understanding
Mendel’s factors are the genes found on the chromosomes. They segregate because of the formation of haploid gametes (meiosis)
Genes for various traits are found on different chromosomes and so there are all combinations found in gametes.
3 situation 3 characteristics of genotype
- Homozygous dominant
- Heterozygous
- Homozygous recessive
genotype
the genetic content of the organisms including all the allele variations:
homozygous: dominant, recessive
Heterozygous
Phenotype
- the observed trait of an organism
- heterozygous and homozygous dominant genotypes will express the dominant trait (they look the same)
what did mendel get wrong
- P a B – all stay together
- Will not assert themselves independent of each other
- Has to be in different chromosomes – the different characteristics
Alleles
: different versions of the same gene found on homologous chromosomes at the same locus
Alleles are dominant or recessive to each other :
Dominance
: the version of the gene is expressed regardless of the other allele
Recessive
: the version of the gene is expressed only when the other allele is also recessive
Punnett squares
Method to figure out the results of genetic crosses
Monohybrid : crosses using only one trait
Dihybrid : crosses using two traits
Somatic and Sex-linked traits
In many organisms gender is determined by the possession of certain chromosomes : sex chromosomes
Genes located on these chromosomes govern sex-linked traits
Genes on the other chromosomes are somatic traits.
- Homo sapiens - chromosomes
o 22 homologous pairs of chromosomes
Somatic chromosomes
Characteristics – refer to as autosomal traits
• One that is governed by alleles found in somatic chromosomes
• Dominance vs recessive
o Always hold true
o Dominant trait will be expressed regardless what other allele is
o 1 pair of sex chromosomes
Non-somatic chromosomes
Not homologous
Characteristics found on sex chromosomes – sex linked traits
Characteristics found on sex chromosomes – sex linked traits
• XX – females o Dominant vs recessive o Same type of gene found in loci • XY o Non homologous pchromosome o Dominant expressed o Recessive Expressed o Both – doesn’t matter where it is..theres no corresponding allele to over ride it. All will be expressed
Incomplete dominance
Heterozygous genotypes show a intermediate phenotype (different phenotype) Snapdragon flower color o Red flowers – homozygous dominant RR Red Rr (pink) dominant not complete o White flowers – homozygous recessive Rr White Camellia flower color
Codominance
Alleles which are equally expressed Examples : human red blood cell type A B AB O - Two dominant version – can be both expressed
Blood types determined by protein presence
- Blood determined by proteins on surface of RBC o 2 version of protein A – dominant traits B – dominant traits o If no proteins on surface of cells O blood cells • Recessive • Homozygous recessive to have characteristics
Phenotype of Blood and its antigens
o Proteins – antigens A type = A antigens B type = B antigens AB type = AB antigens O type = neither AB antigens
blood type and antibodies
o Antibodies – floating around blood anti bodies against that’s not suppose to be there A = anti B B = anti A A + B = No antibodies O = has both aA and a-B bodies
o Genetoypes of Phenotype
A = AA, Ao
B = BB, Bo (Homozygous dominant, heterozygous)
A+B = AB (both dominant) Codominant Genotype
O = oo (homozygous recessive)
o Compatibility of blood types
A = A, O Transfusion based on matched blood type B = B, O A+B = A,B,O • Universal recipient • Rarest bloodtype • codominant O = O • Compatible as a donor to any bloodtype • Universal donor
Polygenic traits
Phenotypes governed by more than one gene (more than one locus)
Iris color
Human skin color
- Most visual characteristics appear in human
- That char is governed by one gene in more than one locus
- Represents in more than one chromosomes
- Hair, skin, eye color
Genetic disorders
- Mutations in the DNA
Autosomal
Tay-Sachs o Autosomal recessive disorder o Both version of allele as recessive trait Cystic fibrosis o Recessive traits PKU o Dominant o Doesntn process protein very well Neurofibromatosis o Single mutation – Dominant Huntington’s disease o Dominant trait
Genetic Disorder
Sex-linked
Hemophilia
Hemophilia Inability of blood to clot – bleeders Delecate blood vessels Carried on X chromosome X(H) Xh females Alexis – male • Xh Y
Genetic Disorder
Sex-Linked
Color-Blindness
Color-blindness X(N) normal X(n) recessive Female – both version XN Xn(normal) • Xn Xn must carry mutation color blind • Father has to be color blind • Recessive must have both the gene • All sons will be colorblind • Daughter not nescessarily Male • XN Y normal • Xn Y colorblind o Carried in X chromosomes
Non-disjunction
Chromosomes don’t separate (what stages?)
Gametes have too few or too many copies of the chromosomes
Trisomy 21
Three copies of this chromosome
Klinefelter’s
XXY
Mutations shows up in organism
o Extra, missing, changing sequence of basis
o Result of poor cell division – non-disjunction
- Instead of separating – chromosomes stick together
some gametes with too few chromosomes – with too many chromosomes
• Too few – don’t survive no longer humans, missing something
• Result of other has one too many
o Trisomy
Three copies of this chromosome Trisomy 21 • Downsyndrome • Has 3 copies of chromosome 21 • Shows up more often in offspring of older women o First pregnancy o Over 40 • Correct spindle/apparatus governs mitosis
o Klinefelter’s
Don’t have division of XX chromosome
XXY (m)
Not very male like, underdeveloped genital,, steriless
Central idea of biological science is?
– evolution: both commonalities and how things become different/diversity
Earth is estimated to be about?
4.6 billion years old
The earliest evidence of life is from?
3.5 billion years ago
NATURE OF THE EARLY EARTH
The surface of the early earth was primarily volcanic and thought to have been very hot.
The earth has always been of sufficient size to have an atmosphere but the composition of the atmosphere has changed dramatically from the primitive earth to now.
- Atmosphere about 1/5 oxygen today wasn’t back then no free oxygen
- Has to be sufficient size to hold on to gravity
PRIMITIVE ATMOSPHERE
Water vapor, nitrogen, carbon dioxide, hydrogen and carbon monoxide, ammonia, methane.
- Simple gasses
NO free OXYGEN
The atmosphere back then was? unlike todays
The atmosphere was a reducing atmosphere not a oxidizing atmosphere like today.
THE FIRST BIO-MOLECULES
- How did it first combined into cell – bio chemicals
- 1950s – miller’s experiment
o Amino acids found (building blocks of proteins) -> enzymes -> regulates other reactions
Polymerise – formed chains
Produce biological active molecules from inorganic starting material
The first Bio-molecules
- the action of primal forces such as? on molecules in the atmosphere created organic molecules like amino acids the building blocks of proteins
Heat of volcanoes
the electricity from lightening
radiation from the sun
Because of lack of O2 in the primordial days there was? compared today
- increase amount of radiation from the sun – high amount UV radiation
Now - Because of high O2 – part of it converted to ozone
o Buffer agains UV radiation
If it shrinks or disappears increased amount of radiation - UV radiation has an effect to biological DNA, RNA
The First Bio-Molecules
- newly formed organic molecules accumulated over hundreds of thousands of years and started to polymerize into larger?
Macromolecules
- polymers of amino acids or other nitrogen containing compounds
Theories of why – which came first – how life developed – probably combination of both
Protein world
- Amino acids can be generated abiotically (without any organism being around)
o Polymeration can happen without living things
Development of enzymes
(requirements of living things – reproduce)
Don’t have ability to reproduce
RNA World
o Can copy itself
o Some piecies have enzymatic activity
Can cut themselves in two
o More difficult to make abiotically
Alternate Hypothesis of the first active bio-molecules
RNA molecules formed would be able to begin enzymatic action on itself (some RNA molecules demonstrate this trait)
Proteins formed first would have some catalytic properties (enzymatic)
PROTOCELLS
protobionts
- Formation of primitive cells-like structures happens spontaneously under the proper conditions.
- Phospholipids spontaneously form liposomes in aqueous conditions. These are droplet-like bodies which have been made to contain different kinds of substances like certain drugs.