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Mendelian diseases
Definition: Diseases in which the phenotypes are largely determined by the action, lack of action, of mutations at individual loci. Rare 1% of all live born individuals 4 types of inheritance :Autosomal dominant :Autosomal recessive :X linked dominant :X linked recessive
In dominant genetic diseases, the "bad" gene overcomes the "good" gene and disease occurs.
In recessive genetic diseases, the good" gene overcomes the bad" gene
More than half of Mendelian diseases inherited as an autosomal dominant. Autosomal dominant diseases are related with geographical regions. For example incidence of some diseases for different regions: Huntington, Familial hypercholesterolemia.
Achondroplasia
Inherited in an autosomal dominant disorder that is a common cause of dwarfism. Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3 inches) for males and 123 cm (4 feet, inch) for females.
Jason Acuna, alias "Wee-Man", a star of Jackass
Achondroplasia
occurs as a sporadic mutation in approximately 85% of cases (associated with advanced paternal age). In normal circumstances, FGFR3 (Fibroblast growth factor receptor 3) has a negative regulatory effect on bone growth. In Achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones.
Achondroplasia
People with achondroplasia have one normal copy of the fibroblast growth factor receptor 3 gene and one mutant copy. Two copies of the mutant gene are invariably fatal before or shortly after birth. Only one copy of the gene has to be present for the disorder to occur. The prevalence is approximately 1 in 25,000 birth.
Achondroplasia
New gene mutations leading to achondroplasia are associated with increasing paternal age. new gene mutations for achondroplasia are exclusively inherited from the father and occur during spermatogenesis. In about 98% of cases, a G to A point mutation at nucleotide 1138 of the FGFR3 gene causes a glycine to arginine. About 1% of cases are caused by a G to C point mutation at nucleotide 1138.
Familial hypercholesterolemia
FH is a autosomal dominant disorder characterized by high cholesterol levels, specifically very high levels of LDL, (bad cholesterol), in the blood and early cardiovascular diseases.
Xanthelasma palpebrarum , yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH.
Example of autosomal dominant conditions include Tuberous sclerosis, neurofibromatosis and many other cancer causing mutations such as retinoblastoma.
X-Linked Inheritance
X-linked diseases are single gene disorders that reflect the presence of defective genes on the X chromosome. X chromosome contains about 1100 genes in which 40% are associated with disorder phenotypes. This chromosome is present as two copies in females but only as one copy in males.
X-Linked Inheritance
Some genetics experts suggest that the dominant and recessive terms not used for X-linked disorders. Heterozygote show the influence in more than 85% of women.
Haemophilia
Haemophilia is a X-linked recessive disorder that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
Haemophilia
Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, occurring at about 1 in 5,00010,000 male births. Haemophilia B (factor IX deficiency) occurs at about 1 in about 20,00034,000 male births. Haemophilia is more likely to occur in males than females. Because females have two X chromosomes and haemophilia is rare.
X-linked dominant inheritance works differently depending upon whether the mother (left image) or father (right image) is the carrier of a gene that causes a disease or disorder.
Rett syndrome
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that affects girls almost exclusively. It is caused by mutations in the gene MECO2 located on the X chromosome. In less than 10% of Rett Syndrome cases, mutations in the genes CDKL5 or FOXG1 have also been found to cause Rett Syndrome
The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Rett syndrome is usually caused (95% or more) by a de novo mutation in the child, i.e., not inherited from either parent Male fetuses with the disorder rarely survive to term.
Enovy
I prefer to walk with shoes and think about God, to sit in the mosque and think the shoes. Ali Shariati