genetic disorders / abnormalities in Gene Flashcards
where does Albinism, Thalassemia and Polydactyly can be found?
autosome
where does color blindness, Hemophilia and G6GD deficiency can be found?
sex chromosome
_______ is much more common in men than women.
It arises from a defect in the recessive
gene on the X chromosome which encodes for the green and red receptors.
_______ happens when one or more color cone cells on the retina are absent, resulting in color vision problems.
There are different degrees of _______.
Some _______ people cannot distinguish between greens and reds, and sometimes blues.
Color blindness
________ is an inherited bleeding disorder in which the blood does not clot normally.
The defect in the recessive gene on the X chromosome affects the production of clotting proteins (clotting factors), resulting in the lack of a coagulation factor or slow blood clotting.
People with ________ bleed for a longer time after an injury than normal people.
-They may have large, deep bruises, swelling, tightness or bleeding in joints when injured. This can lead to chronic joint disease or deformation.
hemophilia
________ is a genetic disorder caused by the defect in the gene on the X chromosome.
-which often affects males.
problem un enzyme in red blood cell
G6PD deficiency
G6PD stands for
glucose-6-phosphate dehydrogenase
lose pigmentation of skin, eyes, and hair
-defect in gene that produce melanin
-pale skin and eyes but have reddish or pinkish eyes
-sensitive to light and have high risk of being sunburned and skin cancer
Albanism
-is a blood disorder
-defect in the gene that regulates hemoglobin production in red blood cells.
- are shorter than average and have yellowish skin and eyes,
-enlarged liver and spleen, bone problems, and complications. Slow growth may also occur.
Thalassemia
person born with extra fingers or toes.
Polydactyly
