Genetic Diseases

gENETICdISEASES

mal 602mOLECULAR BIOLOGY

Done by: Sara Hesham Master - Dentistry Under Supervision of Dr. Olaa Daboose

What is Genetic Diseaese

TURNER SYNDROME

casuses of Genetic diseases

List of Genetic disorders

nOONAN SYNDROME

dOWN SYNDROME

index

tHALASSEMIA

bREAST CANCER

aUTISM

What are the different types of inheritance?

cHARCOT MARIE TOOTH DISEASE

CYSTIC FIBROSIS

abnormality in an individual's genome

Some genetic disorders are inherited from the parents

Genetic Disease

A genetic disorder is a disease caused by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).

Causes of Genetic Diseases:

• Mutation in one gene. • Mutation in multiple genes. • Combination of gene mutation and environmental factors. • Chromosomal abnormalities : in number or structure of the chromosome.

Autosomal Recessive (Ex: Sickle cell disease, cystic fibrosis) Autosomal Dominant (Ex: Marfan syndrome, hereditary multiple exostoses)

What are the different types of inheritance?

1-Single gene inheritance (Mendelian or monogenetic inheritance) 2-Multifactorial (complex or polygenic) 3- Chromosomal 4- Mitochondrial (mutations in the nonchromosomal DNA of mitochondria - mitochondrial DNA is always inherited from the mother)

List of Genetic Diseases

- breast cancer - skin cancer - colon cancer - prostate cancer - noonan syndrome - Down Syndrome - turner syndrome - marfan syndrome- Wilson DIsease- parkinson's disease - charcot marie tooth disease - Thalassemia - sickle cell anemia - cystic fibrosis - velocardiofacial syndrome - trimethylaminuria - tay-sachs disease - spinal mascular atrophy - sever combined immunodifeciency - retintitis pigmentosa - neurofibromatosis - osteogenesis imperfecta - autism - achondroplasia - famelial hypercholosterolemia

CYSTIC FIBROSIS

It is an inherited autosomal recessive diseases of secretory glands, including the glands that make mucus and sweet. The defect is due to mutation causing deletion of three nucleotides that results in a loss of the amino acid phenylalanine. This gene makes a protein that controls the movement of salts and water in and out of cells doesn't work right. The thick, sticky mucus also can block tubes or ducts in pancreas as a result the digestive enzymes in pancreas can't reach small intestine which prevent it from absorbing fats and proteins lead to vitamin deficiency and malnutrition. It also cause bulky stool, intestinal gas, severe constipation and discomfort. Cystic fibrosis also causes the sweat to become very salty as a result the body loses large amounts of salt in sweat which lead to imbalance of minerals in blood and cause health problems (dehydration- weakness- decreased blood pressure-heart stroke).

Miucous blocks Sinuses

Tempor Labore

Miucous blocks Airways of lungs

Mucous blocks Pancreatic & Bile ducts

Miucous blocks Intestines

Miucous secretion in Sex Organs

Breast cancer

- Multifactorial Inheritance. - it is malignant tumor arising from the cells of the breast. There are different genes that influence breast cancer susceptibility have been found on chromosomes 6,11,13, 14,15,17,and 22.

Some of the most common types of cancer are as follows:- 1- Ductal carcinoma The most common type of noninvasive breast cancer This type of cancer has not spread and therefore usually has a very high cure rate 2- Invasive ductal carcinoma this cancer starts in a duct of the breast and grows into surrounding tissue . It is the most form of breast cancer 3-Invasive Lobular carcinoma this breast cancer starts in the glands of the breast that produce milk

Breast Cancer

genetic disorder is associated with mild to moderate learning disabilities, developmentaldelay, characteristic facial features (flattened face and nose, short neck, a small mouth sometimes with large protruding tongue, small ears, white spots on eye iris, the hands are short and broad with short fingers). characteristic mongolian features of the face. • A child with Down syndrome has mental retardation , learning disabilities and congenital heart disease.

Down syndrome

Lorem Ipsum

Normally each human cell contains 23 pairs of different chromosomes carries genes which are needed for development and maintenance of our bodies .At conception an individual inherits 23 chromosomes from the mother (through the egg) and 23 chromosomes from the father (through sperm). In Down syndrome an individual most often inherits two copies of chromosome 21 from the mother and one chromosome 21 from the father for a total of three chromosome 21. Because Down syndrome is caused by inheritance of three chromosomes 21 the disorder is also called Trisomy 21.

turner syndrome

It is a chromosomal condition that alter development in females (related to the x chromosome). Women with this condition tend be shorter than average and usually unable to conceive a child (infertile) because of an absence of ovarian function, extra skin on the neck, middle ear infection.• Non function ovaries are another symptoms of turner syndrome, normally a girl's ovaries begin to produce sex hormones (estrogen and progesterone) at puberty, this does not happen in turner syndrome girls. They do not start their periods or develop breasts without hormone treatment at the age of puberty.

noonan syndrome

Thalassemia

Consectetur siadipiscing elit

Charcot marie tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited conditions that damage the peripheral nerves. It's also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy (PMA). The peripheral nerves are found outside the main central nervous system (brain and spinal cord)

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