The Frequency and Typing of HPV Virus Among Suspected Women Referred to HPV Genotyping Test in Mazandaran, Northern Iran.

BACKGROUND: Human papilloma viruses are a group of the Papillomaviridae family (ds DNA viruses), which infect basal epithelial cells. So far, 228 types of HPV have been identified, in which about 40 types infect the genital mucosa. In Iran, cervical cancer has been reported as the second most common malignancy in women which is approximately 8.8% of all cancers in women. HPV genotypes are classified as high-risk and low-risk according to cervical cancer. According to previous reports, nearly 70% of cervical cancers occur by HPV genotypes 16 and 18, of which genotype 16 is known as the most prevalent type. The main goal of this study was determining the frequency of HPV virus and its genotypes in the female population of Mazandaran. METHODS: This study was performed on 91 pathological samples. DNA was extracted from 500 µL of liquid-based cytology samples and PCR was performed for all of the samples. Genotyping step was performed based on strip assay method. RESULTS: HPV 39 (6.55%), 56 (3.27%), 51 (3.27%), and 68 (3.27%) were the most frequent types respectively. Also, HPV 11 (8.19%) and 6 (3.27%) show the most frequency among LR-HPV genotypes. HPV type 6 (16.39%), 56 (14.75%), 11 (14.75%), 16 (13.11%), and 66 (11.47%) were the four most common types seen in mixed infection samples. CONCLUSIONS: Differences among the types of HPV can be due to various geographical distributions of HPV. Our results revealed HPV 39 (6.55%) is the most common type among of HR-HPV followed by HPV 56, 51, 68 (3.27%); however, HPV 16 and HPV 18 were seen in just one case. HPV 11 (8.19%) and HPV 6 (3.27%) were the most common type among of LR-HPV.

Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran.

BACKGROUND: Phenylketonuria (PKU) is the most common aminoacidopathy with an autosomal recessive inheritance pattern. A global PKU prevalence is estimated about 6.002 in 100,000 newborns. In Iran, the prevalence of PKU is estimated at about 1 in 4,698, and it shows an increasing trend from north (0.0015%) to south (0.02%) of the country. Untreated PKU causes mental retardation, microcephaly, and seizure. PAH gene mutations located at chromosome 12q23 are responsible for the classical type of this disease. The spectrum of PAH mutations is varied in different ethnicities and different parts of the world. The aim of this study was to investigate the frequency of PAH mutation in the Mazandaran province, which could be useful for genetic counseling and prenatal diagnosis. METHODS: A total of 66 individuals from 33 families from two provinces (9 families from Golestan and 24 families from Mazandaran) from north of Iran participated in this study. After genomic DNA extraction, PAH gene analysis was carried out using DNA sequencing of both coding and non-coding regions by ABI 3130XL genetic analyzer. RESULTS: Twenty-six different mutations were identified in the PAH gene in this study. Four mutations including IVS10-11 (c.1066-11G>A), c.727C>T (p.Arg243X), c.898G>T (p.Ala300Ser), and c.601C>T (p.His201Tyr) were the most common mutations with 37.48% frequency in Mazandaran province. Most frequent mutations in Golestan province were IVSI0-11 (c.1066-11G>A), c.722delG (p.Arg241fs), c.842C>T (p.Pro281Leu), and IVSII+5 (G>A) with frequency 58.57%. CONCLUSIONS: The results from the present study verify heterogeneity of the PAH gene and may help to diagnose tests for carrier detection and prenatal diagnosis of the PKU disease in Iranian population.