Inheritance Flashcards

(31 cards)

1
Q

Step by step describe Meiosis and its phases

A

The distinguishing features at each stage of Meiosis I
Prophase I: Homologous pairs of chromosomes are visible

Metaphase I: Homologous pairs are lined up side by side along the equator of spindle

Anaphase I: Whole chromosomes are being pulled to opposite poles with centromeres intact

Telophase I: There are 2 groups of condensed chromosomes around which nuclei membranes are forming

Cytokinesis: Cytoplasm is dividing and cell membrane is pinching inwards to form two cells

The distinguishing features at each stage of Meiosis II
Prophase II: Single whole chromosomes are visible

Metaphase II: Single whole chromosomes are lined up along the equator of the spindle in single file (at 90 degree angle to the old spindle)

Anaphase II: Centromeres divide and chromatids are being pulled to opposite poles

Telophase II: Nuclei are forming around the 4 groups of condensed chromosomes

Cytokinesis: Cytoplasm is dividing and four haploid cells are forming

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2
Q

Meiosis: Sources of Genetic Variation

A

Crossing over
Process:
During meiosis I homologous chromosomes pair up r

The non-sister chromatids can cross over and get entangled
These crossing points are called chiasmata

The entanglement places stress on the DNA molecules

As a result of this, a section of chromatid from one chromosome may break and rejoin with the chromatid from the other chromosome

result in a new combination of alleles on the two chromosomes

Independent assortment
Independent assortment is the production of different combinations of alleles in daughter cells due to the random alignment of homologous pairs along the equator of the spindle during metaphase I

In prophase I homologous chromosomes pair up and in metaphase I they are pulled towards the equator of the spindle

Each pair can be arranged with either chromosome on top, this is completely random

The orientation of one homologous pair is independent (unaffected by the orientation of any other pair)

The homologous chromosomes are then separated and pulled apart to different poles

The combination of alleles that end up in each daughter cell depends on how the pairs of homologous chromosomes were lined up

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3
Q

TYR gene & albinism

A

The amino acid tyrosine is converted to DOPA by the enzyme tyrosinase

DOPA is converted to dopaquinone again by the enzyme tyrosinase

Dopaquinone is converted to melanin

tyrosine → DOPA → dopaquinone → melanin

There is a recessive allele for the gene TYR that causes a lack of enzyme tyrosinase or the presence of inactive tyrosinase
Humans with albinism lack the pigment melanin in their skin, hair and eyes

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4
Q

HBB gene & sickle cell anaemia

A

Humans with sickle cell anaemia have abnormal haemoglobin in their red blood cells

β-globin is a polypeptide found in haemoglobin that is coded for by the gene HBB

There is an abnormal allele for the gene HBB which produces a slightly different amino acid sequence to the normal allele

The DNA base sequence GAG is replaced by GTG

This means that CTC is replaced by CAC on the complementary DNA template strand, meaning that GAG is replaced by GUG in the resulting mRNA

This change in amino acid sequence results in an abnormal β-globin polypeptide

The amino acid Glu is replaced with Val

They are unable to transport oxygen around the body

They stick to each other and clump together blocking capillaries
HBB is an autosoma recessive gene
A homozygous individual that has two abnormal alleles for the HBB gene produces only sickle cell haemoglobin

A heterozygous individual that has one normal allele and one abnormal allele for the HBB gene will produce some normal haemoglobin and some sickle cell haemoglobin

They are a carrier of the allele

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5
Q

F8 gene & haemophilia

A

The gene F8 codes for the Factor VIII protein

There are abnormal alleles of the F8 gene that result in:

Production of abnormal forms of factor VIII

Less production of normal factor VIII

No production of factor VIII

A lack of normal factor VIII prevents normal blood clotting and causes the condition haemophilia

The F8 gene is located on the X chromosome.
This means F8 is a sex-linked gene.
Haemophilia is a sex-linked condition

If males have an abnormal allele they will have the condition as they have only one copy of the gene

Females can be heterozygous for the F8 gene and not suffer from the condition but act as a carrier

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6
Q

HTT gene & Huntington’s disease

A

Huntington’s disease is a genetic condition that develops as a person ages

Usually a person with the disease will not show symptoms until they are 30 years old or older

An individual with the condition experiences neurological degeneration; they lose their ability to walk, talk and think

It has been found that individuals with Huntington’s disease have abnormal alleles of the HTT gene

The HTT gene codes for the protein huntingtin which is involved in neuronal development

People that have a large number (>40) of repeated CAG triplets present in the nucleotide sequence of their HTT gene suffer from the disease

The abnormal allele is dominant over the normal allele

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7
Q

Structural gene

A

A structural gene codes for a protein that has a function within a cell

For example, the F8 gene codes for the protein Factor VIII involved in blood clotting

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8
Q

Regulatory gene

A

A regulatory gene codes for a protein that helps to control the expression of another gene

Structural and regulatory genes that work together are usually found close together

Regulatory genes control structural genes and their levels of protein production

Regulatory genes sometimes have control over several structural genes at once

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9
Q

Inducible enzymes

A

Inducible enzymes are only synthesised when their substrate is present

The presence of the substrate induces the synthesis of of the enzyme by causing the transcription of the gene for the enzyme to start

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10
Q

repressible enzymes

A

Repressible enzymes are synthesised as normal until a repressor protein binds to an operator

The presence of the repressor protein represses the synthesis of the enzyme by causing the transcription of the gene for the enzyme to stop

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11
Q

lac operon function

A

The lac operon controls the production of the enzyme lactase (also called β-galactosidase) and two other structural proteins

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12
Q

Lac operon structure

A

The components of the lac operon are found in the following order:

Promoter for structural genes

Operator

Structural gene lacZ that codes for lactase

Structural gene lacY that codes for permease (allows lactose into the cell)

Structural gene lacA that codes for transacetylase

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13
Q

how are genes expressed

A

The lac repressor protein has two binding sites that allow it to bind to the operator in the lac operon and also to lactose (the effector molecule)

When it binds to the operator it prevents the transcription of the structural genes as RNA polymerase cannot attach to the promoter

When it binds to lactose the shape of the repressor protein distorts and it can no longer bind to the operator

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14
Q

absence of lactose

A

The regulatory gene is transcribed and translated to produce lac repressor protein

The lac repressor protein binds to the operator region upstream of lacZ

Due to the presence of the repressor protein RNA polymerase is unable to bind to the promoter region

Transcription of the structural genes does not take place

No lactase enzyme is synthesized

Atp and amino acids are conserved

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15
Q

presence of lactose

A

RNA polymerase binds to the promoter and expressed the regulatory gene.

This produces the repressor protein which gets inhabited by lactose sugar

changing the original shape the repressor protein cant bind with the promotor and the RNA polymerase bids to it and allows expression of structural gene

Lac Z Y A are expressed and
beta galactosidase, Lactose permease and transacetylase is produced and the lactose is broken down and used

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16
Q

How do gibberellins effect seed germination

A

Gibberelins diffuse to aleuron layer when water enters the seed

Gibberelins bind to the receptor

Destroy the DELLA protein

Pif binds to the promotor

Genes are expressed to produce synthesis amylase

17
Q

Prophase I

A

Nuclear membrane and nucleolus disappears

Supper coiling to form sister chromatids (chiasma)

Centrioles more to opposite poles

Homologous chromosomes pair up =Synapsis
forming bivalents

cross over

18
Q

Metaphase I

A

Bivalents line up along the equator

Random/independent assortment occurs

both can happen at the same time this can lead to 4 different alleles

19
Q

Anaphase I

A

Spindle fibers shorten pulling the homologues pairs apart
separating the centromere to opposite poles

20
Q

Metaphase II

A

Sister chromatids align in the equator

21
Q

Anaphase II

A

Separation of sister chromatids

22
Q

Telophase and cytokinesis

A

Cell division producing haploid cells (Reduction division)

23
Q

Reduction division

A

Nuclear division that results in a reduction in chromosome number

24
Q

Genetic variation can be risen from

A

Independent assortment
Crossin over
Random fertilization

25
Codominant allele
Each affect phonotype when both alleles are present
26
Sex linkage
A gene found on a region of a sex chromosome
27
Epistasis
Sometimes 2 different genes on different chromosomes affect the same feature. The alleles of ne gene affect the expression of the other
28
Autosomal linkage
When two or more gene loci are on the same chromosome, they do not assort independently in meiosis as they would if they were on different chromosomes. The genes are said to be linked. They stay together in the same combinations as in the parents, and are said to be linked. Autosomal linkage involves the autosomes – that is, all of the chromosomes except the sex chromosomes.
29
Define haploid and diploid
diploid an organism with 2 sets of chromosomes (2n) haploid an organism with 1 set of chromosome (n)
30
homologous chromosomes
same length same loci same centromere
31
Le le genes and plant tallness
Le is the dominant alelle if present then plant can grow tall Le alllows the production of enzyme in its active form of gibberelin which stimulates cell division, elongation in the stem and leaf allowing the pea plant to grow taller le is the recessive allele if present they remain short it codes for alanine instead of threonine at the position of enzyme near the active site producing a non functional enzyme therefore **lele ** pea plants are geentically dwarf as the do not contain active form of gibberelin