Answer to Question #187835 in Molecular Biology for FAIZAN KHAN

Question

. Phenylketonuria is one of the most common autosomal recessive diseases caused by a hereditary defect in the PAH gene, which controls the synthesis of the hepatic enzyme phenylalanine hydroxylase. The incidence of diseases in Kazakhstan ranges from 1 in 6,000 to 10,000 newborns. The most common type of mutation is single nucleotide substitutions (missense, nonsense, and splice site mutations). The major mutation in PKU is R408W. Determine the location of the PAH gene and the R408W gene mutation in the human chromosome.

  - Complete the quest with:

• Online Mendelian Inheritance in Man (OMIM)
• Human Genome Mutation Database (HGMD)

Answer 1

R408W gene and PAH gene is found on chromosome 12 at 12q22-12q24 region.