MUTATION
‫الطفرة‬
Prepared by
Yousef Elshrek
• In this presentation we are
going to talk about mutations
•
‫العرض‬ ‫هذا‬ ‫في‬
‫الطفرات‬ ‫عن‬ ‫سنتحدث‬
MUTATIONS
‫الطفرات‬
• So, we'll cover what causes
mutations and what some of their
consequences can be
•
‫وما‬ ‫الطفرات‬ ‫حدوث‬ ‫أسباب‬ ‫سنغطي‬ ‫وعليه‬
‫نتائجها‬ ‫وبعض‬ ‫ستسببه‬ ‫الذي‬
• In this figure shows that C has been
changed to a G these mutations
happen spontaneously in our cells all
the time.
•
‫أن‬ ‫يظهر‬ ‫التالي‬ ‫الشكل‬ ‫في‬
C
‫ق‬
‫تغييرها‬ ‫تم‬ ‫د‬
‫إلى‬
G
‫و‬
‫يحدث‬ ‫الطفرات‬ ‫من‬ ‫النوع‬ ‫هذا‬
‫وقت‬ ‫كل‬ ‫في‬ ‫خاليانا‬ ‫في‬ ‫تلقائيا‬
.
• DEFINITION OF MUTATION
• Mutation is a change in the DNA base sequence
so a change in a sequence of letters that make up
our DNA code like in figures as an example.
•
‫تعريف‬
‫الطفرة‬
•
‫الطفرة‬
‫هي‬
‫تغيير‬
‫في‬
‫تسلسل‬
‫قاعدة‬
‫الحامض‬
(DNA)
‫التي‬
‫سيحدث‬
‫تغييرا‬
‫في‬
‫سلسلة‬
‫الحروف‬
‫التي‬
‫تشكل‬
‫رمز‬
(COD)
DNA
‫كما‬
‫هو‬
‫موضح‬
‫في‬
‫الشكل‬
‫التالي‬
:
• These spontaneously changes take
place in particularly during DNA
duplication before cell division
like in mitosis
•
‫خ‬ ‫بشكل‬ ‫التلقائية‬ ‫التغييرات‬ ‫هذه‬ ‫تحدث‬
‫اص‬
‫النووي‬ ‫الحامض‬ ‫ازدواجية‬ ‫أثناء‬
DNA
‫و‬
‫قبل‬
‫االنقسام‬ ‫في‬ ‫الحال‬ ‫هو‬ ‫كما‬ ‫الخاليا‬ ‫انقسام‬
mitosis
‫الطفرة‬
:
• Two things that increase their
risk of mutations are
1. Group of harmful chemicals
that are carcinogenic such as
a cigarette.
2. Certain types of radiation like
x-rays or gamma rays
•
‫حدوث‬ ‫خطر‬ ‫من‬ ‫يزيدان‬ ‫أمران‬ ‫هناك‬
‫هما‬ ‫الطفرات‬
.1
‫الضارة‬ ‫الكيميائية‬ ‫المواد‬ ‫من‬ ‫مجموعة‬
‫سيجارة‬ ‫مثل‬ ‫المسرطنة‬
.
.2
‫األشعة‬ ‫مثل‬ ‫اإلشعاع‬ ‫من‬ ‫معينة‬ ‫أنواع‬
ِ ‫جاما‬ ‫أشعة‬ ‫أو‬ ‫السينية‬
• It's important to understand
though that these things don't
always cause mutations they just
increase the risk of a mutation
occurring.
•
‫من‬
‫المهم‬
‫أن‬
‫نفهم‬
‫أن‬
‫هذه‬
‫األشياء‬
‫ال‬
‫تسبب‬
‫دائما‬
،‫الطفرات‬
‫إال‬
‫إنها‬
‫قد‬
‫تزيد‬
‫فقط‬
‫من‬
‫حدوث‬
‫خطر‬
‫الطفرة‬
.
• Then all it really is a particular sequence of bases each group of 3
bases is called a triplet or a codon
•
‫من‬ ‫المكونة‬ ‫مجموعة‬ ‫وكل‬ ‫القواعد‬ ‫من‬ ‫معينة‬ ‫سلسلة‬ ‫هناك‬
3
‫كودون‬ ‫أو‬ ‫الثالثي‬ ‫تسمى‬ ‫قواعد‬
(
‫جين‬
)
• To understand how mutations affect our body we need to quickly recap how DNA
works if we think of a gene which is just a section of DNA that codes for protein
•
‫سنلخص‬
‫تلخيصا‬
‫سريعا‬
‫لفهم‬
‫عمل‬
‫الدنا‬
‫وكيف‬
‫يتم‬
‫تأثير‬
‫الطفرات‬
‫على‬
‫الجسم‬
‫بافتراض‬
‫بأن‬
‫الجين‬
‫هو‬
‫جزء‬
‫من‬
‫الدنا‬
‫الذي‬
‫يقوم‬
‫بتصنيع‬
‫البروتين‬
.
A triple / codon
• Codes for one of the 20 different amino acids so this codon here ACC might code for
amino acid 7 while there's other one CTA could code for amino acid 18 by doing this for
all of the triplets
•
‫رموز‬
‫ألحد‬
‫األحماض‬
‫األمينية‬
‫العشرين‬
‫المختلفة‬
،
‫إذا‬
‫فهذا‬
‫الكودون‬
codon
‫قد‬
‫يكون‬
‫رمز‬
ACC
‫لألحماض‬
‫األمينية‬
7
‫و‬
‫هناك‬
CTA
‫ر‬
‫مز‬
‫آخر‬
‫لح‬
‫ا‬
‫مض‬
‫األميني‬
18
‫التي‬
‫تكونت‬
‫عن‬
‫طريق‬
‫الثالث‬
‫ي‬
.
A triplet / codon ‫العشرين‬ ‫األمينية‬ ‫األحماض‬ ‫ألحد‬ ‫رموز‬
ACC
‫الكودون‬
coon
‫رمز‬
‫ل‬
‫حا‬
‫م‬
‫األميني‬ ‫ض‬
7
TCA
‫الكودون‬
codon
‫ل‬ ‫رمز‬
‫حا‬
‫م‬
‫األميني‬ ‫ض‬
18
• and then combining the amino acids together in the correct order that create a long
chain of amino acids which can then fold up by itself to form a protein 02:03
•
‫األمي‬ ‫األحماض‬ ‫من‬ ‫طويلة‬ ‫سلسلة‬ ‫عنها‬ ‫وينتج‬ ‫منسق‬ ‫ترتيب‬ ‫في‬ ‫معا‬ ‫األمينية‬ ‫األحماض‬ ‫تتجمع‬ ‫ثم‬ ‫ومن‬
‫التي‬ ‫نية‬
‫بروتين‬ ‫لتشكيل‬ ‫ذلك‬ ‫بعد‬ ‫تضاعف‬ ‫أن‬ ‫يمكن‬
• but if this piece of DNA had a
mutation for example this G here
changed to a T, then the amino
acid that this codon codes for
might change as well.
•
‫كان‬ ‫إذا‬ ‫ولكن‬
‫الطفرة‬ ‫هذه‬
‫في‬ ‫حدث‬
‫جزء‬
‫من‬
‫النووي‬ ‫الحامض‬
DNA
‫وذلك‬
‫ب‬
‫تغيير‬
G
‫إلى‬
T
،
‫ت‬ ‫في‬ ‫تغييرا‬ ‫التغيير‬ ‫هذا‬ ‫ويتبع‬
‫كوين‬
‫رموز‬
‫األمينية‬ ‫األحماض‬
‫يكون‬ ‫سوف‬ ‫والذي‬
‫تكوينها‬ ‫حاسم‬ ‫تأثير‬ ‫له‬
• This small change can have lots of knock-on effects because the overall
sequence of amino acids who had now been different. so, the protein that
it ends up forming would be different as well meaning that it can have
a different shape or functions.
•
‫الصغير‬ ‫التغيير‬ ‫هذا‬
‫الذي‬
‫له‬ ‫يكون‬ ‫أن‬ ‫يمكن‬
‫التأثير‬
‫ومختلف‬ ‫الكبير‬
‫على‬
‫تكوين‬
‫ا‬
‫العام‬ ‫لتسلسل‬
‫و‬ ‫األمينية‬ ‫لألحماض‬
‫تكوين‬ ‫على‬
‫البروتين‬
‫وف‬ ‫شكله‬ ‫في‬ ‫مختلفا‬ ‫بروتينا‬ ‫ينتج‬ ‫الذي‬
‫وظائفه‬ ‫ي‬
.
Sequences of amino acid would be deferent
‫مختلفا‬ ‫سيكون‬ ‫األمينية‬ ‫األحماض‬ ‫تسلسل‬
• for example, if this protein was an enzyme, then the mutation might
change the shape or the enzymes active site
• so, they can't fit the substrate anymore.
•
‫إنزيم‬ ‫البروتين‬ ‫هذا‬ ‫كان‬ ‫إذا‬ ،‫المثال‬ ‫سبيل‬ ‫على‬
،
‫ربما‬
‫اإلن‬ ‫موقع‬ ‫أو‬ ‫الشكل‬ ‫تغير‬ ‫قد‬ ‫الطفرة‬
‫زيمات‬
‫النشطة‬
‫لذا‬
،
‫التفاعل‬ ‫لمادة‬ ‫مالئم‬ ‫غير‬ ‫ويصبح‬
.
•
• This would mean that it can't form an enzyme substrate complex
•
‫تشكل‬ ‫أن‬ ‫يمكن‬ ‫ال‬ ‫أنه‬ ‫يعني‬ ‫وهذا‬
‫إنزيم‬ ‫ركيزة‬
• So, it couldn't catalyze the reaction most of the time though a mutation doesn't
have any significant effect this is because they'll often only affect a protein
very slightly so it might look a tiny bit different, but it still works in basically
the same way.
‫تأثير‬ ‫أي‬ ‫لها‬ ‫ليس‬ ‫طفرة‬ ‫أن‬ ‫من‬ ‫الرغم‬ ‫على‬ ‫الوقت‬ ‫لمعظم‬ ‫التفاعل‬ ‫تحفيز‬ ‫يمكن‬ ‫ال‬ ‫فإنه‬ ، ‫لذلك‬
‫ألنها‬ ‫كبير‬
‫ت‬ ‫أي‬ ‫منها‬ ‫يحدث‬ ‫وال‬ ‫جدا‬ ‫قليال‬ ‫البروتين‬ ‫تكوين‬ ‫على‬ ‫األحيان‬ ‫بعض‬ ‫في‬ ‫تأثيرها‬ ‫يكون‬ ‫سوف‬
‫كبيرة‬ ‫غيرات‬
‫الطريقة‬ ‫بنفس‬ ‫األساس‬ ‫في‬ ‫يعمل‬ ‫يزال‬ ‫ال‬ ‫ولكنه‬ ‫تكوينه‬ ‫في‬
.
• Also, most mutations occur in what we call non-coding DNA which isn't part of
any gene and so it doesn't code for protein most of this non-coding DNA doesn't
seem to do anything at all and we're not sure why we have so much of it.
•
‫الدنا‬ ‫يسمى‬ ‫ما‬ ‫في‬ ‫الطفرات‬ ‫معظم‬ ‫أيضا‬ ‫تحدث‬
DNA
، ‫جين‬ ‫أي‬ ‫من‬ ‫جزءا‬ ‫وليس‬ ‫ترميز‬ ‫له‬ ‫ليس‬ ‫الذي‬
‫ي‬ ‫شيء‬ ‫أن‬ ،‫أ‬ ‫يبدو‬ ‫ال‬ ‫ترميز‬ ‫له‬ ‫ليس‬ ‫الذي‬ ‫الدنا‬ ‫هذا‬ ‫معظم‬ ‫في‬ ‫للبروتين‬ ‫رمز‬ ‫ال‬ ‫فإنه‬ ‫وبالتالي‬
‫على‬ ‫فعله‬ ‫مكن‬
‫منه‬ ‫الكثير‬ ‫لدينا‬ ‫لماذا‬ ‫متأكدين‬ ‫ولسنا‬ ، ‫اإلطالق‬
.
• but some of it does play an important role in the expression of genes which
is whether those genes are turned on or off.
•
‫على‬ ‫الجينات‬ ‫تلك‬ ‫كانت‬ ‫سواء‬ ‫الجينات‬ ‫عن‬ ‫التعبير‬ ‫في‬ ‫هاما‬ ‫دورا‬ ‫يلعب‬ ‫ال‬ ‫منه‬ ‫بعض‬ ‫ولكن‬
‫التشغيل‬ ‫قيد‬
‫تشغيله‬ ‫إيقاف‬ ‫حالة‬ ‫في‬ ‫أو‬
.
For example, if we think of a nerve cell there's no need for it to produce
hemoglobin because hemoglobin only needed by red blood cells
‫الهي‬ ‫ألن‬ ‫الهيموجلوبين‬ ‫إلنتاج‬ ‫لها‬ ‫حاجة‬ ‫فال‬ ‫عصبية‬ ‫خلية‬ ‫في‬ ‫فكرنا‬ ‫إذا‬ ،‫المثال‬ ‫سبيل‬ ‫على‬
‫تحتاج‬ ‫موجلوبين‬
‫فقط‬ ‫الحمراء‬ ‫الدم‬ ‫خاليا‬ ‫إليه‬
• so in the nerve cell the gene for hemoglobin will be switched off which is
the same thing as saying that it won't be expressed you
•
‫وفي‬
‫الجين‬ ‫إيقاف‬ ‫سيتم‬ ‫العصبية‬ ‫الخلية‬
‫ا‬
‫أن‬ ‫يقول‬ ‫كما‬ ‫الشيء‬ ‫نفس‬ ‫وهو‬ ‫لهيموجلوبين‬
‫التعبير‬ ‫يتم‬ ‫لن‬ ‫ه‬
‫له‬
• The last thing we need to cover are the three specific types of
mutations substitutions insertions and deletions.
•
‫و‬ ‫اإلدخال‬ ‫استبدال‬ ‫الطفرات‬ ‫من‬ ‫المحددة‬ ‫الثالثة‬ ‫األنواع‬ ‫هو‬ ‫لتغطيته‬ ‫نحتاج‬ ‫شيء‬ ‫آخر‬
‫الحذف‬
.
if we take this DNA sequence as an example let's start with a substitution
mutation which is when one of the basis is changed or substituted for another
random base like
•
‫اخذ‬ ‫إذا‬
‫الح‬ ‫تسلسل‬
‫ا‬
‫النووي‬ ‫مض‬
DNA
‫كمثال‬
‫لبدء‬
‫ال‬
‫طفرة‬
‫حدوث‬ ‫طريق‬ ‫عن‬
‫استبدال‬
substitution
‫عشوائيا‬ ‫باآلخر‬ ‫قواعدها‬ ‫أحد‬
.
• If there's a change to a T or this G changed to an A
•
‫إلى‬ ‫التغيير‬ ‫هذا‬ ‫كان‬ ‫إذا‬
T
‫أو‬
G
‫إلى‬ ‫تغيرت‬
A
• As we saw earlier the problem with this is that it changes the code on
that basis in and so it could change the amino acid that it codes
•
‫سابق‬ ‫وقت‬ ‫في‬ ‫رأينا‬ ‫كما‬
‫أن‬
‫هو‬ ‫المشكلة‬
‫في‬ ‫تغيير‬ ‫أي‬
‫ت‬
‫غي‬
‫الرمز‬ ‫ير‬
code
‫في‬ ‫تغيير‬ ‫عنه‬ ‫ينتج‬
‫األميني‬ ‫الحامض‬ ‫رموز‬ ‫تكوين‬
.
• INSERTION
• The second type of mutation is
insertion mutation is a bit different
this time an extra base is inserted
into the sequence somewhere for
example if a c was inserted in here
between the T and the A of CTA then
this codon would change from CTA
to CTC
•
‫اإلدخال‬ ‫طفرة‬
•
‫هو‬ ‫اإلدراج‬ ‫طفرة‬ ‫هو‬ ‫الطفرة‬ ‫من‬ ‫الثاني‬ ‫النوع‬
‫إضاف‬ ‫قاعدة‬ ‫إدراج‬ ‫يتم‬ ‫المرة‬ ‫هذه‬ ‫قليال‬ ‫مختلف‬
‫ية‬
‫المثال‬ ‫سبيل‬ ‫على‬ ‫ما‬ ‫مكان‬ ‫في‬ ‫تسلسل‬ ‫في‬
‫تم‬ ‫إذا‬
‫إدراج‬
C
‫بين‬
T
‫و‬
A
‫في‬
CTA
‫وعليه‬
‫من‬ ‫الكودون‬ ‫سيتغير‬
CTA
‫إلى‬
CTC
• Then this codon would change from CTA to CTC because the a has
been pushed along to the next codon this feature means that these
mutations are a lot worse than substitution mutations are because.
•
‫من‬ ‫سيتغير‬ ‫كودون‬ ‫هذا‬ ‫ثم‬
CTA
‫إلى‬
CTC
‫دفع‬ ‫تم‬ ‫ألنه‬ ‫ل‬
a
‫إلى‬ ‫طول‬ ‫على‬
codon
‫المقبل‬
‫ألن‬ ‫استبدال‬ ‫الطفرات‬ ‫من‬ ‫بكثير‬ ‫أسوأ‬ ‫هي‬ ‫الطفرات‬ ‫هذه‬ ‫أن‬ ‫يعني‬ ‫الميزة‬ ‫هذه‬
.
•
• because the A has been pushed
along to the next codon. This feature
means that these mutations are a lot
worse than substitution mutations
are because it means that all the
subsequent bases are shifted along
by one which alters all the
subsequent columns. So, the amino
acid chain after that point would be
completely different you
•
‫ألن‬
A
‫قد‬
‫دفعت‬
‫على‬
‫طول‬
‫إلى‬
codon
‫التالي‬
.
‫هذا‬
‫الدفع‬
‫يعني‬
‫حدوث‬
‫طفرات‬
‫أسوأ‬
‫بكثير‬
‫م‬
‫ن‬
‫الطفرات‬
‫االستبدال‬
‫ألنه‬
‫فيها‬
‫تم‬
‫نقل‬
‫في‬
‫ج‬
‫ميع‬
‫القواعد‬
‫الالحقة‬
‫الذي‬
‫سيغيرها‬
‫جميعا‬
‫تكوي‬
‫ن‬
‫سلسلة‬
‫األحماض‬
‫األمينية‬
‫بعد‬
‫تلك‬
‫النقطة‬
‫م‬
‫ختلفة‬
‫تماما‬
.
• A similar thing happens with deletion mutations which is where one of the
bases is deleted from a sequence, for example, if T gets deleted that DNA will
look like AGC changed from TAG because the T’s been removed and a has now
shifted one.
•
‫يحدث‬
‫مع‬ ‫الشيء‬ ‫نفس‬
‫س‬ ‫على‬ ، ‫تسلسل‬ ‫من‬ ‫القواعد‬ ‫إحدى‬ ‫حذف‬ ‫فيها‬ ‫يتم‬ ‫التي‬ ‫الحذف‬ ‫طفرات‬
‫المثال‬ ‫بيل‬
‫إذا‬ ،
‫حذفت‬
T
،
‫إلى‬ ‫القاعدة‬ ‫في‬ ‫التسلسل‬ ‫سيتغير‬
AGC
‫من‬ ‫بدال‬
TAG
‫إزالة‬ ‫بسبب‬
T
.
• T’s have been removed this a has
now shifted one space to the left a
hand as a result all these spaces will
also have shifted one space to the
left
• So, as well as this codon being
different all these subsequent ones
will be as well.
‫إزالة‬ ‫نالحظ‬ ‫المقابل‬ ‫الشكل‬ ‫في‬
T
‫التسلسل‬ ‫من‬
‫يضم‬ ‫الذي‬
TAG
‫مكانها‬ ‫وحلت‬
C
‫من‬
‫التسلسل‬
‫يضم‬ ‫والذي‬ ‫يليه‬ ‫الذي‬
CTA
‫يضم‬ ‫وأصبح‬
TAG
‫التسلسل‬ ‫من‬ ‫اإلحالل‬ ‫عملية‬ ‫وتستمر‬
‫و‬ ‫يليه‬ ‫الذي‬
‫ت‬
‫حتى‬ ‫العملية‬ ‫ستمر‬
‫الوصول‬
‫ا‬
‫لتسلسل‬
‫قواعده‬ ‫أحد‬ ‫يفقد‬ ‫سوف‬ ‫بدوره‬ ‫والذي‬ ‫األخير‬
‫و‬
‫ي‬
‫يضم‬ ‫صبح‬
AC
‫من‬ ‫بدال‬
GAC
‫ذلك‬ ‫من‬ ‫وينتج‬
‫مختلفا‬ ‫كودون‬
.
• Reference
• GCSE Biology - What are DNA Mutations? #81

Mutation2

  • 1.
  • 2.
    • In thispresentation we are going to talk about mutations • ‫العرض‬ ‫هذا‬ ‫في‬ ‫الطفرات‬ ‫عن‬ ‫سنتحدث‬ MUTATIONS ‫الطفرات‬
  • 3.
    • So, we'llcover what causes mutations and what some of their consequences can be • ‫وما‬ ‫الطفرات‬ ‫حدوث‬ ‫أسباب‬ ‫سنغطي‬ ‫وعليه‬ ‫نتائجها‬ ‫وبعض‬ ‫ستسببه‬ ‫الذي‬
  • 4.
    • In thisfigure shows that C has been changed to a G these mutations happen spontaneously in our cells all the time. • ‫أن‬ ‫يظهر‬ ‫التالي‬ ‫الشكل‬ ‫في‬ C ‫ق‬ ‫تغييرها‬ ‫تم‬ ‫د‬ ‫إلى‬ G ‫و‬ ‫يحدث‬ ‫الطفرات‬ ‫من‬ ‫النوع‬ ‫هذا‬ ‫وقت‬ ‫كل‬ ‫في‬ ‫خاليانا‬ ‫في‬ ‫تلقائيا‬ . • DEFINITION OF MUTATION • Mutation is a change in the DNA base sequence so a change in a sequence of letters that make up our DNA code like in figures as an example. • ‫تعريف‬ ‫الطفرة‬ • ‫الطفرة‬ ‫هي‬ ‫تغيير‬ ‫في‬ ‫تسلسل‬ ‫قاعدة‬ ‫الحامض‬ (DNA) ‫التي‬ ‫سيحدث‬ ‫تغييرا‬ ‫في‬ ‫سلسلة‬ ‫الحروف‬ ‫التي‬ ‫تشكل‬ ‫رمز‬ (COD) DNA ‫كما‬ ‫هو‬ ‫موضح‬ ‫في‬ ‫الشكل‬ ‫التالي‬ :
  • 5.
    • These spontaneouslychanges take place in particularly during DNA duplication before cell division like in mitosis • ‫خ‬ ‫بشكل‬ ‫التلقائية‬ ‫التغييرات‬ ‫هذه‬ ‫تحدث‬ ‫اص‬ ‫النووي‬ ‫الحامض‬ ‫ازدواجية‬ ‫أثناء‬ DNA ‫و‬ ‫قبل‬ ‫االنقسام‬ ‫في‬ ‫الحال‬ ‫هو‬ ‫كما‬ ‫الخاليا‬ ‫انقسام‬ mitosis ‫الطفرة‬ :
  • 6.
    • Two thingsthat increase their risk of mutations are 1. Group of harmful chemicals that are carcinogenic such as a cigarette. 2. Certain types of radiation like x-rays or gamma rays • ‫حدوث‬ ‫خطر‬ ‫من‬ ‫يزيدان‬ ‫أمران‬ ‫هناك‬ ‫هما‬ ‫الطفرات‬ .1 ‫الضارة‬ ‫الكيميائية‬ ‫المواد‬ ‫من‬ ‫مجموعة‬ ‫سيجارة‬ ‫مثل‬ ‫المسرطنة‬ . .2 ‫األشعة‬ ‫مثل‬ ‫اإلشعاع‬ ‫من‬ ‫معينة‬ ‫أنواع‬ ِ ‫جاما‬ ‫أشعة‬ ‫أو‬ ‫السينية‬
  • 7.
    • It's importantto understand though that these things don't always cause mutations they just increase the risk of a mutation occurring. • ‫من‬ ‫المهم‬ ‫أن‬ ‫نفهم‬ ‫أن‬ ‫هذه‬ ‫األشياء‬ ‫ال‬ ‫تسبب‬ ‫دائما‬ ،‫الطفرات‬ ‫إال‬ ‫إنها‬ ‫قد‬ ‫تزيد‬ ‫فقط‬ ‫من‬ ‫حدوث‬ ‫خطر‬ ‫الطفرة‬ .
  • 8.
    • Then allit really is a particular sequence of bases each group of 3 bases is called a triplet or a codon • ‫من‬ ‫المكونة‬ ‫مجموعة‬ ‫وكل‬ ‫القواعد‬ ‫من‬ ‫معينة‬ ‫سلسلة‬ ‫هناك‬ 3 ‫كودون‬ ‫أو‬ ‫الثالثي‬ ‫تسمى‬ ‫قواعد‬ ( ‫جين‬ ) • To understand how mutations affect our body we need to quickly recap how DNA works if we think of a gene which is just a section of DNA that codes for protein • ‫سنلخص‬ ‫تلخيصا‬ ‫سريعا‬ ‫لفهم‬ ‫عمل‬ ‫الدنا‬ ‫وكيف‬ ‫يتم‬ ‫تأثير‬ ‫الطفرات‬ ‫على‬ ‫الجسم‬ ‫بافتراض‬ ‫بأن‬ ‫الجين‬ ‫هو‬ ‫جزء‬ ‫من‬ ‫الدنا‬ ‫الذي‬ ‫يقوم‬ ‫بتصنيع‬ ‫البروتين‬ . A triple / codon
  • 9.
    • Codes forone of the 20 different amino acids so this codon here ACC might code for amino acid 7 while there's other one CTA could code for amino acid 18 by doing this for all of the triplets • ‫رموز‬ ‫ألحد‬ ‫األحماض‬ ‫األمينية‬ ‫العشرين‬ ‫المختلفة‬ ، ‫إذا‬ ‫فهذا‬ ‫الكودون‬ codon ‫قد‬ ‫يكون‬ ‫رمز‬ ACC ‫لألحماض‬ ‫األمينية‬ 7 ‫و‬ ‫هناك‬ CTA ‫ر‬ ‫مز‬ ‫آخر‬ ‫لح‬ ‫ا‬ ‫مض‬ ‫األميني‬ 18 ‫التي‬ ‫تكونت‬ ‫عن‬ ‫طريق‬ ‫الثالث‬ ‫ي‬ . A triplet / codon ‫العشرين‬ ‫األمينية‬ ‫األحماض‬ ‫ألحد‬ ‫رموز‬ ACC ‫الكودون‬ coon ‫رمز‬ ‫ل‬ ‫حا‬ ‫م‬ ‫األميني‬ ‫ض‬ 7 TCA ‫الكودون‬ codon ‫ل‬ ‫رمز‬ ‫حا‬ ‫م‬ ‫األميني‬ ‫ض‬ 18
  • 10.
    • and thencombining the amino acids together in the correct order that create a long chain of amino acids which can then fold up by itself to form a protein 02:03 • ‫األمي‬ ‫األحماض‬ ‫من‬ ‫طويلة‬ ‫سلسلة‬ ‫عنها‬ ‫وينتج‬ ‫منسق‬ ‫ترتيب‬ ‫في‬ ‫معا‬ ‫األمينية‬ ‫األحماض‬ ‫تتجمع‬ ‫ثم‬ ‫ومن‬ ‫التي‬ ‫نية‬ ‫بروتين‬ ‫لتشكيل‬ ‫ذلك‬ ‫بعد‬ ‫تضاعف‬ ‫أن‬ ‫يمكن‬
  • 11.
    • but ifthis piece of DNA had a mutation for example this G here changed to a T, then the amino acid that this codon codes for might change as well. • ‫كان‬ ‫إذا‬ ‫ولكن‬ ‫الطفرة‬ ‫هذه‬ ‫في‬ ‫حدث‬ ‫جزء‬ ‫من‬ ‫النووي‬ ‫الحامض‬ DNA ‫وذلك‬ ‫ب‬ ‫تغيير‬ G ‫إلى‬ T ، ‫ت‬ ‫في‬ ‫تغييرا‬ ‫التغيير‬ ‫هذا‬ ‫ويتبع‬ ‫كوين‬ ‫رموز‬ ‫األمينية‬ ‫األحماض‬ ‫يكون‬ ‫سوف‬ ‫والذي‬ ‫تكوينها‬ ‫حاسم‬ ‫تأثير‬ ‫له‬
  • 12.
    • This smallchange can have lots of knock-on effects because the overall sequence of amino acids who had now been different. so, the protein that it ends up forming would be different as well meaning that it can have a different shape or functions. • ‫الصغير‬ ‫التغيير‬ ‫هذا‬ ‫الذي‬ ‫له‬ ‫يكون‬ ‫أن‬ ‫يمكن‬ ‫التأثير‬ ‫ومختلف‬ ‫الكبير‬ ‫على‬ ‫تكوين‬ ‫ا‬ ‫العام‬ ‫لتسلسل‬ ‫و‬ ‫األمينية‬ ‫لألحماض‬ ‫تكوين‬ ‫على‬ ‫البروتين‬ ‫وف‬ ‫شكله‬ ‫في‬ ‫مختلفا‬ ‫بروتينا‬ ‫ينتج‬ ‫الذي‬ ‫وظائفه‬ ‫ي‬ . Sequences of amino acid would be deferent ‫مختلفا‬ ‫سيكون‬ ‫األمينية‬ ‫األحماض‬ ‫تسلسل‬
  • 13.
    • for example,if this protein was an enzyme, then the mutation might change the shape or the enzymes active site • so, they can't fit the substrate anymore. • ‫إنزيم‬ ‫البروتين‬ ‫هذا‬ ‫كان‬ ‫إذا‬ ،‫المثال‬ ‫سبيل‬ ‫على‬ ، ‫ربما‬ ‫اإلن‬ ‫موقع‬ ‫أو‬ ‫الشكل‬ ‫تغير‬ ‫قد‬ ‫الطفرة‬ ‫زيمات‬ ‫النشطة‬ ‫لذا‬ ، ‫التفاعل‬ ‫لمادة‬ ‫مالئم‬ ‫غير‬ ‫ويصبح‬ . •
  • 14.
    • This wouldmean that it can't form an enzyme substrate complex • ‫تشكل‬ ‫أن‬ ‫يمكن‬ ‫ال‬ ‫أنه‬ ‫يعني‬ ‫وهذا‬ ‫إنزيم‬ ‫ركيزة‬
  • 15.
    • So, itcouldn't catalyze the reaction most of the time though a mutation doesn't have any significant effect this is because they'll often only affect a protein very slightly so it might look a tiny bit different, but it still works in basically the same way. ‫تأثير‬ ‫أي‬ ‫لها‬ ‫ليس‬ ‫طفرة‬ ‫أن‬ ‫من‬ ‫الرغم‬ ‫على‬ ‫الوقت‬ ‫لمعظم‬ ‫التفاعل‬ ‫تحفيز‬ ‫يمكن‬ ‫ال‬ ‫فإنه‬ ، ‫لذلك‬ ‫ألنها‬ ‫كبير‬ ‫ت‬ ‫أي‬ ‫منها‬ ‫يحدث‬ ‫وال‬ ‫جدا‬ ‫قليال‬ ‫البروتين‬ ‫تكوين‬ ‫على‬ ‫األحيان‬ ‫بعض‬ ‫في‬ ‫تأثيرها‬ ‫يكون‬ ‫سوف‬ ‫كبيرة‬ ‫غيرات‬ ‫الطريقة‬ ‫بنفس‬ ‫األساس‬ ‫في‬ ‫يعمل‬ ‫يزال‬ ‫ال‬ ‫ولكنه‬ ‫تكوينه‬ ‫في‬ .
  • 16.
    • Also, mostmutations occur in what we call non-coding DNA which isn't part of any gene and so it doesn't code for protein most of this non-coding DNA doesn't seem to do anything at all and we're not sure why we have so much of it. • ‫الدنا‬ ‫يسمى‬ ‫ما‬ ‫في‬ ‫الطفرات‬ ‫معظم‬ ‫أيضا‬ ‫تحدث‬ DNA ، ‫جين‬ ‫أي‬ ‫من‬ ‫جزءا‬ ‫وليس‬ ‫ترميز‬ ‫له‬ ‫ليس‬ ‫الذي‬ ‫ي‬ ‫شيء‬ ‫أن‬ ،‫أ‬ ‫يبدو‬ ‫ال‬ ‫ترميز‬ ‫له‬ ‫ليس‬ ‫الذي‬ ‫الدنا‬ ‫هذا‬ ‫معظم‬ ‫في‬ ‫للبروتين‬ ‫رمز‬ ‫ال‬ ‫فإنه‬ ‫وبالتالي‬ ‫على‬ ‫فعله‬ ‫مكن‬ ‫منه‬ ‫الكثير‬ ‫لدينا‬ ‫لماذا‬ ‫متأكدين‬ ‫ولسنا‬ ، ‫اإلطالق‬ .
  • 17.
    • but someof it does play an important role in the expression of genes which is whether those genes are turned on or off. • ‫على‬ ‫الجينات‬ ‫تلك‬ ‫كانت‬ ‫سواء‬ ‫الجينات‬ ‫عن‬ ‫التعبير‬ ‫في‬ ‫هاما‬ ‫دورا‬ ‫يلعب‬ ‫ال‬ ‫منه‬ ‫بعض‬ ‫ولكن‬ ‫التشغيل‬ ‫قيد‬ ‫تشغيله‬ ‫إيقاف‬ ‫حالة‬ ‫في‬ ‫أو‬ .
  • 18.
    For example, ifwe think of a nerve cell there's no need for it to produce hemoglobin because hemoglobin only needed by red blood cells ‫الهي‬ ‫ألن‬ ‫الهيموجلوبين‬ ‫إلنتاج‬ ‫لها‬ ‫حاجة‬ ‫فال‬ ‫عصبية‬ ‫خلية‬ ‫في‬ ‫فكرنا‬ ‫إذا‬ ،‫المثال‬ ‫سبيل‬ ‫على‬ ‫تحتاج‬ ‫موجلوبين‬ ‫فقط‬ ‫الحمراء‬ ‫الدم‬ ‫خاليا‬ ‫إليه‬
  • 19.
    • so inthe nerve cell the gene for hemoglobin will be switched off which is the same thing as saying that it won't be expressed you • ‫وفي‬ ‫الجين‬ ‫إيقاف‬ ‫سيتم‬ ‫العصبية‬ ‫الخلية‬ ‫ا‬ ‫أن‬ ‫يقول‬ ‫كما‬ ‫الشيء‬ ‫نفس‬ ‫وهو‬ ‫لهيموجلوبين‬ ‫التعبير‬ ‫يتم‬ ‫لن‬ ‫ه‬ ‫له‬
  • 20.
    • The lastthing we need to cover are the three specific types of mutations substitutions insertions and deletions. • ‫و‬ ‫اإلدخال‬ ‫استبدال‬ ‫الطفرات‬ ‫من‬ ‫المحددة‬ ‫الثالثة‬ ‫األنواع‬ ‫هو‬ ‫لتغطيته‬ ‫نحتاج‬ ‫شيء‬ ‫آخر‬ ‫الحذف‬ .
  • 21.
    if we takethis DNA sequence as an example let's start with a substitution mutation which is when one of the basis is changed or substituted for another random base like • ‫اخذ‬ ‫إذا‬ ‫الح‬ ‫تسلسل‬ ‫ا‬ ‫النووي‬ ‫مض‬ DNA ‫كمثال‬ ‫لبدء‬ ‫ال‬ ‫طفرة‬ ‫حدوث‬ ‫طريق‬ ‫عن‬ ‫استبدال‬ substitution ‫عشوائيا‬ ‫باآلخر‬ ‫قواعدها‬ ‫أحد‬ .
  • 22.
    • If there'sa change to a T or this G changed to an A • ‫إلى‬ ‫التغيير‬ ‫هذا‬ ‫كان‬ ‫إذا‬ T ‫أو‬ G ‫إلى‬ ‫تغيرت‬ A
  • 23.
    • As wesaw earlier the problem with this is that it changes the code on that basis in and so it could change the amino acid that it codes • ‫سابق‬ ‫وقت‬ ‫في‬ ‫رأينا‬ ‫كما‬ ‫أن‬ ‫هو‬ ‫المشكلة‬ ‫في‬ ‫تغيير‬ ‫أي‬ ‫ت‬ ‫غي‬ ‫الرمز‬ ‫ير‬ code ‫في‬ ‫تغيير‬ ‫عنه‬ ‫ينتج‬ ‫األميني‬ ‫الحامض‬ ‫رموز‬ ‫تكوين‬ .
  • 24.
    • INSERTION • Thesecond type of mutation is insertion mutation is a bit different this time an extra base is inserted into the sequence somewhere for example if a c was inserted in here between the T and the A of CTA then this codon would change from CTA to CTC • ‫اإلدخال‬ ‫طفرة‬ • ‫هو‬ ‫اإلدراج‬ ‫طفرة‬ ‫هو‬ ‫الطفرة‬ ‫من‬ ‫الثاني‬ ‫النوع‬ ‫إضاف‬ ‫قاعدة‬ ‫إدراج‬ ‫يتم‬ ‫المرة‬ ‫هذه‬ ‫قليال‬ ‫مختلف‬ ‫ية‬ ‫المثال‬ ‫سبيل‬ ‫على‬ ‫ما‬ ‫مكان‬ ‫في‬ ‫تسلسل‬ ‫في‬ ‫تم‬ ‫إذا‬ ‫إدراج‬ C ‫بين‬ T ‫و‬ A ‫في‬ CTA ‫وعليه‬ ‫من‬ ‫الكودون‬ ‫سيتغير‬ CTA ‫إلى‬ CTC
  • 25.
    • Then thiscodon would change from CTA to CTC because the a has been pushed along to the next codon this feature means that these mutations are a lot worse than substitution mutations are because. • ‫من‬ ‫سيتغير‬ ‫كودون‬ ‫هذا‬ ‫ثم‬ CTA ‫إلى‬ CTC ‫دفع‬ ‫تم‬ ‫ألنه‬ ‫ل‬ a ‫إلى‬ ‫طول‬ ‫على‬ codon ‫المقبل‬ ‫ألن‬ ‫استبدال‬ ‫الطفرات‬ ‫من‬ ‫بكثير‬ ‫أسوأ‬ ‫هي‬ ‫الطفرات‬ ‫هذه‬ ‫أن‬ ‫يعني‬ ‫الميزة‬ ‫هذه‬ . •
  • 26.
    • because theA has been pushed along to the next codon. This feature means that these mutations are a lot worse than substitution mutations are because it means that all the subsequent bases are shifted along by one which alters all the subsequent columns. So, the amino acid chain after that point would be completely different you • ‫ألن‬ A ‫قد‬ ‫دفعت‬ ‫على‬ ‫طول‬ ‫إلى‬ codon ‫التالي‬ . ‫هذا‬ ‫الدفع‬ ‫يعني‬ ‫حدوث‬ ‫طفرات‬ ‫أسوأ‬ ‫بكثير‬ ‫م‬ ‫ن‬ ‫الطفرات‬ ‫االستبدال‬ ‫ألنه‬ ‫فيها‬ ‫تم‬ ‫نقل‬ ‫في‬ ‫ج‬ ‫ميع‬ ‫القواعد‬ ‫الالحقة‬ ‫الذي‬ ‫سيغيرها‬ ‫جميعا‬ ‫تكوي‬ ‫ن‬ ‫سلسلة‬ ‫األحماض‬ ‫األمينية‬ ‫بعد‬ ‫تلك‬ ‫النقطة‬ ‫م‬ ‫ختلفة‬ ‫تماما‬ .
  • 27.
    • A similarthing happens with deletion mutations which is where one of the bases is deleted from a sequence, for example, if T gets deleted that DNA will look like AGC changed from TAG because the T’s been removed and a has now shifted one. • ‫يحدث‬ ‫مع‬ ‫الشيء‬ ‫نفس‬ ‫س‬ ‫على‬ ، ‫تسلسل‬ ‫من‬ ‫القواعد‬ ‫إحدى‬ ‫حذف‬ ‫فيها‬ ‫يتم‬ ‫التي‬ ‫الحذف‬ ‫طفرات‬ ‫المثال‬ ‫بيل‬ ‫إذا‬ ، ‫حذفت‬ T ، ‫إلى‬ ‫القاعدة‬ ‫في‬ ‫التسلسل‬ ‫سيتغير‬ AGC ‫من‬ ‫بدال‬ TAG ‫إزالة‬ ‫بسبب‬ T .
  • 28.
    • T’s havebeen removed this a has now shifted one space to the left a hand as a result all these spaces will also have shifted one space to the left • So, as well as this codon being different all these subsequent ones will be as well. ‫إزالة‬ ‫نالحظ‬ ‫المقابل‬ ‫الشكل‬ ‫في‬ T ‫التسلسل‬ ‫من‬ ‫يضم‬ ‫الذي‬ TAG ‫مكانها‬ ‫وحلت‬ C ‫من‬ ‫التسلسل‬ ‫يضم‬ ‫والذي‬ ‫يليه‬ ‫الذي‬ CTA ‫يضم‬ ‫وأصبح‬ TAG ‫التسلسل‬ ‫من‬ ‫اإلحالل‬ ‫عملية‬ ‫وتستمر‬ ‫و‬ ‫يليه‬ ‫الذي‬ ‫ت‬ ‫حتى‬ ‫العملية‬ ‫ستمر‬ ‫الوصول‬ ‫ا‬ ‫لتسلسل‬ ‫قواعده‬ ‫أحد‬ ‫يفقد‬ ‫سوف‬ ‫بدوره‬ ‫والذي‬ ‫األخير‬ ‫و‬ ‫ي‬ ‫يضم‬ ‫صبح‬ AC ‫من‬ ‫بدال‬ GAC ‫ذلك‬ ‫من‬ ‫وينتج‬ ‫مختلفا‬ ‫كودون‬ .
  • 29.
    • Reference • GCSEBiology - What are DNA Mutations? #81