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Lecture 6. altered genes are mutations

The DNA sequences from two individuals of the same species are highly similar - differing by only about one nucleotide in 1,000. A mutation is, most simply, an alteration in a DNA sequence.  This change may or may not lead to a change in the protein coded by the gene.  A change that has no effect on protein sequence or function is termed a polymorphism and is a part of the normal variation present in the human genome.  Often, however, a change in a DNA sequence will result in the disruption of gene function that we term "Clinical Manifestations" in the Clinical Integration Model .  The altered protein that results from a mutation can disrupt the way a gene functions, and this can lead to clinical disease.  How these mutations manifest themselves depends on each individual's unique genetic endowment and interactions with their environment. 

Furthermore, the change may or may not be passed on to subsequent generations.  If, as in non-familial cancer, the mutation occurs in isolated somatic cells , it will not be passed on to subsequent generations.  Only those mutations occurring to the DNA in the gametes (egg or sperm) will potentially be passed on to offspring.  If the mutation is passed on to the offspring, they will carry this mutation in all of the cells in their body.  

Following is a brief review of different types of mutations:

Base pair substitution

Replacement of one DNA base by another in the DNA sequence. Replacement of nucleotide bases can have several possible consequences.

Missense mutation

An amino acid residue in the original protein may be replaced by a different one in the mutated protein.

Nonsense mutation

The codon for an amino acid residue within the original protein is changed to a stop codon, which leads to a premature termination of the protein resulting in a non functional protein.

Silent mutation

  The codon for an amino acid is changed, but the same amino acid is still coded for.  This is possible because some amino acids are coded for by multiple codons.  For example, the sequences UGC and UGU both code for Cysteine.

Frameshift mutation

A deletion or insertion of any number of bases other than a multiple of three bases has a much more profound effect. Such frameshift mutation results in a complete change in the amino acid sequence downstream from the point of mutation, instead of simply a change in the number of amino acids.  

Deletions, insertions, and duplications

Deletions or insertions may be large or small. Large insertions and deletions in coding regions almost invariably prevent the production of useful proteins. The effect of short deletions or insertions depends on whether or not they involve multiples of three bases. If one, two, or more whole codons (three base pairs or any multiple of three) are removed or added, the consequence is the deletion or addition of a corresponding number of amino acid residues.  Sometimes, an entire gene can be inserted (duplicated) or deleted.  The effects of these types of mutations depend on where in the genome they occur and how many base pairs are involved.  

Questions & Answers

what is math number
Tric Reply
x-2y+3z=-3 2x-y+z=7 -x+3y-z=6
Sidiki Reply
Need help solving this problem (2/7)^-2
Simone Reply
x+2y-z=7
Sidiki
what is the coefficient of -4×
Mehri Reply
-1
Shedrak
the operation * is x * y =x + y/ 1+(x × y) show if the operation is commutative if x × y is not equal to -1
Alfred Reply
An investment account was opened with an initial deposit of $9,600 and earns 7.4% interest, compounded continuously. How much will the account be worth after 15 years?
Kala Reply
lim x to infinity e^1-e^-1/log(1+x)
given eccentricity and a point find the equiation
Moses Reply
12, 17, 22.... 25th term
Alexandra Reply
12, 17, 22.... 25th term
Akash
College algebra is really hard?
Shirleen Reply
Absolutely, for me. My problems with math started in First grade...involving a nun Sister Anastasia, bad vision, talking & getting expelled from Catholic school. When it comes to math I just can't focus and all I can hear is our family silverware banging and clanging on the pink Formica table.
Carole
I'm 13 and I understand it great
AJ
I am 1 year old but I can do it! 1+1=2 proof very hard for me though.
Atone
hi
Adu
Not really they are just easy concepts which can be understood if you have great basics. I am 14 I understood them easily.
Vedant
find the 15th term of the geometric sequince whose first is 18 and last term of 387
Jerwin Reply
I know this work
salma
The given of f(x=x-2. then what is the value of this f(3) 5f(x+1)
virgelyn Reply
hmm well what is the answer
Abhi
If f(x) = x-2 then, f(3) when 5f(x+1) 5((3-2)+1) 5(1+1) 5(2) 10
Augustine
how do they get the third part x = (32)5/4
kinnecy Reply
make 5/4 into a mixed number, make that a decimal, and then multiply 32 by the decimal 5/4 turns out to be
AJ
how
Sheref
can someone help me with some logarithmic and exponential equations.
Jeffrey Reply
sure. what is your question?
ninjadapaul
20/(×-6^2)
Salomon
okay, so you have 6 raised to the power of 2. what is that part of your answer
ninjadapaul
I don't understand what the A with approx sign and the boxed x mean
ninjadapaul
it think it's written 20/(X-6)^2 so it's 20 divided by X-6 squared
Salomon
I'm not sure why it wrote it the other way
Salomon
I got X =-6
Salomon
ok. so take the square root of both sides, now you have plus or minus the square root of 20= x-6
ninjadapaul
oops. ignore that.
ninjadapaul
so you not have an equal sign anywhere in the original equation?
ninjadapaul
hmm
Abhi
is it a question of log
Abhi
🤔.
Abhi
I rally confuse this number And equations too I need exactly help
salma
But this is not salma it's Faiza live in lousvile Ky I garbage this so I am going collage with JCTC that the of the collage thank you my friends
salma
Commplementary angles
Idrissa Reply
hello
Sherica
im all ears I need to learn
Sherica
right! what he said ⤴⤴⤴
Tamia
hii
Uday
hi
salma
hi
Ayuba
Hello
opoku
hi
Ali
greetings from Iran
Ali
salut. from Algeria
Bach
hi
Nharnhar
A soccer field is a rectangle 130 meters wide and 110 meters long. The coach asks players to run from one corner to the other corner diagonally across. What is that distance, to the nearest tenths place.
Kimberly Reply
Jeannette has $5 and $10 bills in her wallet. The number of fives is three more than six times the number of tens. Let t represent the number of tens. Write an expression for the number of fives.
August Reply
What is the expressiin for seven less than four times the number of nickels
Leonardo Reply
How do i figure this problem out.
how do you translate this in Algebraic Expressions
linda Reply
why surface tension is zero at critical temperature
Shanjida
I think if critical temperature denote high temperature then a liquid stats boils that time the water stats to evaporate so some moles of h2o to up and due to high temp the bonding break they have low density so it can be a reason
s.
Need to simplify the expresin. 3/7 (x+y)-1/7 (x-1)=
Crystal Reply
. After 3 months on a diet, Lisa had lost 12% of her original weight. She lost 21 pounds. What was Lisa's original weight?
Chris Reply
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Source:  OpenStax, Genetics. OpenStax CNX. Jul 29, 2009 Download for free at http://cnx.org/content/col10782/1.1
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