גנטיקה קלינית

סיכום שיעור 12

NATALYU

NATALYU

פרטי הסיכום

קורס: גנטיקה קלינית

מספר השיעור: 12

סיכום השיעור

סיכום שיעור   12-

בפרק הראשון דיברנו על

Particular variants of the genes distribution in different populations. The particular genes and the variants in those genes responsible for an increasing number of conditions with complex inheritance.

There are different types of genetic disease: disorders due to genome and chromosome mutations, disorders due to single gene mutation, disorders with multifactorial inheritance.

One of them is insulin dependent (type I) diabetes mellitus, which usually results from genetic predispositions and environmental triggers such as viral infections and early exposure to bovine albumin.

Another example is Alzheimer disease – fatal neurodegenerative disease that affects 1 to 2% of the population. It characterizes by progressive deterioration of memory and higher cognitive functions, such as reasoning. This disease shows no obvious mendelian inheritance pattern but shows family aggregation and elevated relative risk. The major risk is associated with e4 alleles was found two to free times more frequently among patients compared with controls. The pathogenesis of the disease shows depositions of b-amyloid peptide and tau protein.

Mitochondrial disorders:

Mitochondria is a power plant of the cell, producing ATP molecules needed for cell metabolism and existence. The mitochondrial disorders inherited maternally and lead to multiple syndromes: Leber hereditary optic neuropathy, Leigh syndrome, deafness, Kearns-Sayre syndrome.

 

עריכת הסיכום

iw עִבְרִית
X