The document discusses different types of mutations that can occur at the genetic level, including point mutations, insertions, deletions, and large-scale mutations involving chromosomal abnormalities. It provides examples and explanations of various point mutations like silent, nonsense, sense, and missense mutations. It also explains how insertions and deletions of nucleotide triplets can cause frameshift mutations. Finally, it discusses large-scale mutations involving changes in chromosomal number like aneuploidy and polyploidy, as well as structural abnormalities of chromosomes through deletion, duplication, inversion, and translocation.

1. BY
Dr: Mohammed Bahgat Mohammed Sofyan
Assistant lecturer
Faculty of medicine, Al-Azhar university
(Assiut branch)

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‫البوربوينت‬
،
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5. Types of mutations
1_ small mutation that affect single gene :
• A_ point mutation
• B_ Deletion
• C_ Insertion
2_ Large-scale mutation : It is abnormality in
• A_ chromosomal number
• B_ chromosomal structure

6. Point mutation
1- Silent mutation :
as UGU ➡ UGC all coded for Cysteine
‫اتغيرت‬
‫النيكليوتيد‬
‫ولكن‬
‫الحمض‬
‫األميني‬
‫كما‬
،‫هو‬
‫فيبقي‬
‫كأنك‬
‫ياأبوزيد‬
‫ما‬
‫غزيت‬
😎
2- Non-Sense mutation :
as UGU coded for cysteine ➡ UGA coded for stop codon result in shorter protein
can't function at all
‫اتغيرت‬
‫النيكليوتيد‬
‫فتوقف‬
،‫النسخ‬
‫فينتج‬
‫بروتين‬
‫ناقص‬
‫متغير‬
‫تماما‬
‫ال‬
‫يعمل‬
.
Example:
a. CAG in exon 2 normally codes for glutamine.
C→T mutation turns it to stop codon (TAG) resulting in β0 thalassemia.
b. Non-sense mutation in exon 3 of β gene: leading to severe unstable beta chain
(dominant thalassemia phenotype).

7. Point mutation
3- Sense mutation :
as UGA coded for stop codon ➡ UGU coded for cysteine result in longer
protein can't function at all
‫ت‬ ‫ومتغير‬ ‫األصلي‬ ‫من‬ ‫أكبر‬ ‫بروتين‬ ‫فنتج‬ ،‫النسخ‬ ‫يتوقف‬ ‫فلم‬ ‫النيكليوتيد‬ ‫اتغيرت‬
‫يعمل‬ ‫وال‬ ‫ماما‬
.
Examples:
b. Hb Constant Spring: α chain of 172 amino acids instead of 141 (excess 31
amino acids).
4- Missense mutation :
as UGU coded for cysteine ➡ UAU coded for Tyrosine, it may be :
‫علي‬ ‫سيؤثر‬ ‫التغيير‬ ‫هذا‬ ‫هل‬ ‫لكن‬ ،‫األميني‬ ‫الحمض‬ ‫معها‬ ‫وتغير‬ ‫النيكليوتيد‬ ‫اتغيرت‬ ‫هنا‬
‫الحمض‬
‫األميني؟‬
⬅

8. Missense mutations
1 - No apparent Missense mutation :
‫بال‬ ‫فقط‬ ‫ونعرفه‬ ‫تغيير‬ ‫أي‬ ‫الوظيفة‬ ‫في‬ ‫يحدث‬ ‫لم‬ ‫ولكن‬ ،‫متغير‬ ‫بروتين‬ ‫ونتج‬ ‫النيكلوتيدة‬ ‫تغيرت‬ ‫لو‬
DNA sequencing as Hb-Milwaukee and Hb-Bristol
2 - Acceptable Missense mutation :
‫يالحظ‬ ‫ال‬ ‫الوظيفة‬ ‫في‬ ‫مقبول‬ ‫طفيف‬ ‫تغير‬ ‫وحدث‬ ‫متغير‬ ‫بروتين‬ ‫ونتج‬ ‫النيكلوتيدة‬ ‫تغيرت‬ ‫لو‬
.
As Hb Hikari
3- Partially Acceptable Missense mutation :
‫بقصو‬ ‫لكن‬ ‫يعمل‬ ‫البروتين‬ ‫زال‬ ‫ما‬ ‫لكن‬ ،‫معروف‬ ‫مرض‬ ‫هذا‬ ‫عن‬ ‫ونتج‬ ‫الوظيفة‬ ‫في‬ ‫شديد‬ ‫تغير‬ ‫وحدث‬ ‫متغير‬ ‫بروتين‬ ‫ونتج‬ ‫النيكلوتيدة‬ ‫تغيرت‬ ‫لو‬
‫ف‬ ‫كما‬ ‫ر‬
‫ي‬
HBS
4- Unacceptable Missense mutation :
‫فق‬ ‫البروتين‬ ‫لكن‬ ،‫معروف‬ ‫مرض‬ ‫هذا‬ ‫عن‬ ‫ونتج‬ ،‫الوظيفة‬ ‫في‬ ‫شديد‬ ‫تغير‬ ‫وحدث‬ ‫متغير‬ ‫بروتين‬ ‫ونتج‬ ‫النيكلوتيدة‬ ‫تغيرت‬ ‫لو‬
‫تماما‬ ‫العمل‬ ‫علي‬ ‫القدرة‬ ‫د‬
‫في‬ ‫كما‬
HBM

9. Insertion or deletion
•
‫من‬
‫المعلوم‬
‫أن‬
‫كل‬
‫ثالثة‬
‫نيوكليوتيدات‬
‫علي‬
‫ال‬
mRNA
‫تمثل‬
‫بحمض‬
‫أميني‬
،‫واحد‬
•
‫لو‬
‫أضفت‬
‫أو‬
‫حذفت‬
‫ثالثة‬
‫نيكلوتيدات‬
‫أو‬
‫مضاعفتها‬
‫هنا‬
‫كل‬
‫اللي‬
‫هيحصل‬
‫إضافة‬
‫أو‬
‫حذف‬
‫حمض‬
‫أميني‬
‫واحد‬
‫أو‬
‫أكثر‬
‫وسيحدث‬
Non-Frame shift mutation.
•
‫أما‬
‫لو‬
‫أضفت‬
‫أو‬
‫حذفت‬
‫غير‬
‫الثالثة‬
‫نيكلوتيدات‬
‫ومضاعفتها‬
‫ك‬
1
'
2
'
4
'
5
'
...
‫هيحصل‬
‫تغيير‬
‫لكل‬
‫البروتين‬
‫ما‬
‫بعد‬
‫الطفرة‬
‫وسيتغير‬
‫البروتين‬
‫تماما‬
‫ويحدث‬
Frame shift mutation

10. small mutation that
affect single gene

16. 2_ Large-scale mutation

17. 2_ Large-scale
mutation
•A_ chromosomal
number
•B_ chromosomal
structure
It's abnormality in

18. A_ abnormality in chromosomal number
• It's due to errors in gametes formation
aneuploidy Polyploidy

19. Aneuploidy
for example
• 1_ Turner syndrome ➡ 45,X or 45,X0).
• 2_ Klinefelter syndrome ➡ 47,XXY
• 3_Edwards S➡trisomy of chromosome
18.
• 4_ Down S ➡ trisomy of chromosome 21.
• 5_ Patau S➡ trisomy of chromosome 13.
• 6_ Trisomy 9.

20. Down Syndrome Turner syndrome

21. Polyploidy
1_ Triploidy : 3 set of
chromosome (3n) 69
chromosomes
2_ Tetraploidy : 4 set of
chromosomes (4n) 92
chromosomes
It is non compatible with life, if
occurs in cells the cell is
abnormal.

22. Triploidy

23. B_ Abnormality in chromosomal structure
It's due to errors in gametes formation or mutagenes ( physical,
biological).
•for example :
1_ Deletion ➡ as Cri du chat deletion syndrome, 1P36
2_ Duplication
3_ Inversion ➡ inv (3) ( q21;q34)
4_ translocation➡ Philadelphia Chromosome in CML

24. Abnormality in chromosomal structure

25. Philadelphia chromosome

27. REFERENCES
• _ https://labtestsonline.org
• _ https://www.medscape.com
• _ https://www.wikipedia.org
• _ Haemoglobinopathy Diagnosis Barbara J. Bain , Third Edition 2020
• _ Lecture Notes Clinical Biochemistry, 9th Edition Walker, Simon, 2103.
• _ https ps://www.labcorp.com
• _ https://www.uptodate.com
• _ https://www.ncbi.nlm.nih.gov Home - PubMed – NCBI
• _TIETZ textbook of clinical chemistry and molecular diagnostics, sixth edition 2018.
• _Essential of clinical pathology book; 1st edition; Shirish M Kawthalkar; 2010.
• _ Harper's illustrated biochemistry 30th edition 2015.
• _ Lippincott's illustrated review of biochemistry sixth edition 2014.
• _Many audios and videos from Well-known, trusted professors who study from accredited
books.

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