NEET BIOLOGY

Detailed explanation-1: -Albinism is a rare genetic disorder where you aren’t born with the usual amount of melanin pigment. Melanin is a chemical in your body that determines the color of your skin, hair and eyes. Most people with albinism have very pale skin, hair and eyes. They are prone to sunburn and skin cancer.

Detailed explanation-2: -If both parents carry the gene, there’s a 1 in 4 chance that their child will have albinism and a 1 in 2 chance that their child will be a carrier. Carriers do not have albinism but can pass on the gene.

Detailed explanation-3: -Most forms of albinism are inherited in an autosomal recessive fashion, which means that it is passed directly from unaffected parents to their children (Figure 1). Because chromosomes are paired, all genes on non-sex (autosomal) chromosomes occur in two copies, called alleles.

Detailed explanation-4: -The term albinism usually refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA). OCA is a group of disorders passed down in families where the body makes little or none of a substance called melanin. The type and amount of melanin in your body determines the color of your skin, hair and eyes.

Detailed explanation-5: -Oculocutaneous albinism can result from mutations in several genes, including TYR, OCA2, TYRP1, and SLC45A2. Changes in the TYR gene cause type 1; mutations in the OCA2 gene are responsible for type 2; TYRP1 mutations cause type 3; and changes in the SLC45A2 gene result in type 4.