PATHOGENETIC POTENTIAL OF THE MUTATIONS OF PAH GENE

Lala Huseynova,Raya Haqverdiyeva

doi:10.51582/interconf.19-20.02.2021.067

Abstract

Some associations were also observed in this study andone of them, including R243X mutation and V245V polymorphism. The mean quality value of surrounding nucleotides of these variants was higher than 50 which proved their accuracy. The R261Q mutation in exon 7 was observed in seven patients from 30 patient. Studies have shown that this mutation is most common in the Azerbaijani population. Being R261G (G-A) mutation we have found a substitution of guanine with adenine. The result of mutation was on protein level, and arginine amino acid was substituted with gluthamine amino acid.

Highlights

Phenylketonuria (PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood
There are over 500 known mutations in the phenylalanine hydroxylase (PAH) gene that cause PKU, which is inherited in an autosomal recessive manner.Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly
Exons 6, 7, 8, 11 and 12 of the PAH gene from 30 patients with PKU were identificated with DNA sequence.They were from different parts of Azerbaijan

Summary

INTRODUCTION

Phenylketonuria (PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems (Scriver C.R.et al 2007; Blau N. et al.2010) Children with classic PKU tend to have lighter skin and hair than unaffected family members and are likely to have skin disorders such as eczema (Bercovich D.et al 2008; Blau N. et al.2011; Erlandsen H. et al.2003; Biglari A. et al.2015). There are over 500 known mutations in the phenylalanine hydroxylase (PAH) gene that cause PKU, which is inherited in an autosomal recessive manner.Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. The severe signs and symptoms of classic PKU are rarely seen (Cabalska B.et al.2003; Bercovich D. et al.2008; MacDonald A. et al.2011; Güttler F. et al.2003)

MATERIALS AND METHODS

RESULTS

Conclusion