هذا اللي شرحته الدكتورة بثينة اليوم

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#researches

هذا اللي شرحته الدكتورة امة اللطيف اليوم

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#researches

#Genetics
#معمل
💐The genome includes both the genes (the coding regions) and the noncoding DNA, as well as. mitochondrial DNA and chloroplast DNA

💐in the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. 

💐 بعدها يبدء يتكلم عن ال Genetic disorder تحصل بسبب Mutation
هذا
🌼🌼1- point mutation:

Mutation of single base :-
a- non sense : change the codon into stop codon
b- silent: change codon to another codon of the same amino acid
C- misssense : change the codon to another codon of different amino acid which alter the structure of the protein

🌼🌼 frimshift mutation :
Either insertion or deletion of a base lead to change the sequence of codon and thereafter, change the amino acids and the protein structure ..


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#باثو

#Genetics

💐 Genetic disorders:


There are 4 types of Genetic disorders:

🌸1- Single Gene mandalian disorder. .

🌸2- Single Gene non- mandalian disorder

🌸3- Chromosomal or (cytogenetics )

🌸4- Multifactorial

وبعدها..

🌺Mandalian disorders :

- Autosomal Dominant
( one allele is enough )
بمجرد وجود الخلل في اليل واحد تظهر اعراض المرض رغم وجود اليل اخر صالح

- Autosomal Resisseve
( 2 alleles are required)

يجب لظهور الصفة الوراثية وجود الاليلين المصابين
- X- linked

Rarely Y linked


Note that : human body contains 46 Chromosomal
22 autosomal pairs one sex pair either XX or XY

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#Genetics

💐للتمييز بين Autosomal Dominant and Resisseve :

غالباً بيكون :

🍃Autosomal Dominant: related to structural and regulatory proteins ..
E.x : neurofibroma >> neurofibromatosis

🍃Autosomal Resisseve: related to defect in the enzymes:
- Glycogen storage diseases
-lysosomal storage disease
- phenylketoneuria

شيء ثاني من ناحية ظهور الاعراض ! 🙄

من بيكون ظهور الاعراض فيه اقوى وفي عمر مبكر ؟!

طبعا ال Autosomal Resisseve !!

بسبب وجود 2 alleles للمرض ..

على عكس ال Dominant. .وجود 1 allele
بيقلي ان ال allele الثاني سليم فظهور المرض بيكون بدرجات مختلفة حسب الاليل السليم وغيره

🍃 X- linked disorder?

G6PD >>> MOSTLY effects males
Rarley effects Females

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#باثو

#Genetics
Neurofibroma:a genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color (pigmentation).

ممكن تاثر على ال sclera of eye :
Lisch nodules
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#باثو

#Genetics

Neurofibromatosis type 2 (NF2) is a hereditary condition most commonly associated with bilateral vestibular schwannomas, also known as acoustic neuromas. These are benign (noncancerous) tumors that occur on the nerves for balance and hearing leading to the inner ear.

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#باثو

Marfan syndrome (MFS) is a genetic disorderof the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis

#Genetics

Down Syndrome

#Genetics

Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features.

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#Genetics

Edwards syndrome:

also known as trisomy 18, is a genetic disorder caused by a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects.

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