The status of PAH gene-VNTR alleles and mini-haplotypes associations with PAH gene mutations in Iranian Kurdish PKU patients
نویسندگان
چکیده
منابع مشابه
Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.
INTRODUCTION We report the frequency of IVS10nt546, R261Q, S67P, R252W, and R408W mutations linked to PAH VNTR alleles in the west Azerbaijani PKU patients. MATERIAL AND METHODS VNTR alleles and IVS10nt546, R261Q, S67P, R252W, R408W mutations were studied in a total of 20 PKU patients by PCR and RFLP-PCR. OUTCOMES Our analysis showed that 95% of cases were homozygote for an allele containin...
متن کاملSpectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) during 2014-2016. Additionally, the results were compared with similar studies in Iran. Nucleotide sequen...
متن کاملIdentifying Variable Number of Tandem Repeat Alleles in Phenylalanine Hydroxylase Gene in Patients with Phenylketonuria in Golestan Province, Iran
Background and Objective: Phenylketonuria (PKU) is a metabolic disorder that is caused by mutations in the phenylalanine hydroxylase (PAH) gene. The multiplicity of mutations in the PAH gene of PKU leads to the cases, in which the pathogenic mutation cannot be detected. In these cases, the variable number of tandem repeat (VNTR), which is the polymorphic marker associated with the PAH gene, is ...
متن کاملFrequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.
INTRODUCTION This study was carried out to determine the frequency of the VNTR-polymorphisms at the PAH gene in the Iranian Azeri Turkish patients with phenylketonuria (PKU) and normal controls. MATERIAL AND METHODS The VNTR-polymorphisms were determined by PCR in 43 PKU patients as well as 43 controls. OUTCOMES The frequencies of VNTR-alleles were 13(15.1%), 3(3.49%), 64(74.4%), 5(5.81%), ...
متن کاملHigh Frequency of IVS10nt546 Linked to VNTR8 in Iranian PKU Patients from Fars Province
Dear Editor Analysis of the phenylalanine hydroxylase (PAH McKusick 261600) gene in different populations has revealed more than 320 different mutations associated with phenylketonuria (PKU). One of these mutations, IVS10nt546, results in severe PAH deficiency due to defective mRNA splicing. It accounts for about 40 percent of all mutant alleles in Turkish and between 10 to 20 percent of all mu...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Medical Journal of The Islamic Republic of Iran
سال: 2019
ISSN: 1016-1430,2251-6840
DOI: 10.47176/mjiri.33.88