Question

Albinism - Explain the genetic basis.

Answer 1

Albinism has classically been described as the complete absence of melanin pigment in the skin, hair and eyes throughout the life of the affected individual. Modern molecular analysis has shown that albinism is a much more complex genetic disorder than previously thought, involving many genes with an array of functions, as well as great variation in the phenotype of affected individuals. There are currently 15 genes that have been associated with albinism, including four nonsyndromic forms of oculocutaneous albinism (reduced pigment affects skin, hair and eyes), one nonsyndromic form of ocular albinism (reduced pigment affects eyes only) and ten syndromic disorders that include albinism as part of the phenotype. The gene functions of the nonsyndromic formsare thought to be involved in melanin biosynthesis and many of the genes associated with the syndromic forms are involved in protein trafficking. Common genetic variants within some of these genes are also associated with normal variation in eye, hair and skin colouration

Answer 2

Dear Student,

● Albinism -

• Also called as achromia, achromatosis, achromasia.
• It is caused by deficiency of melanin - a darkening pigment in skin, hair & eyes.
• Their skin is white/pink, blue eyes hair are white.

# Genetic basis -

• It is autosomal recessive disorder.
• Usually point mutation occurs in recessive allele.
• There is defect in gene producing tyrosinase enzyme required for melanin synthesis.

Thanks dear. Hope this helps you...