Gene, Cell and Tissue
Volume:4 Issue: 3, Jul 2017

The protein tyrosine phosphatase non-receptor 22 (PTPN22) gene encodes the lymphoid protein tyrosine phosphatase. Recent studies demonstrated the association between the > T, -1123G > C variants of PTPN22 gene, and different autoimmune diseases. The current study aimed at examining the association between the polymorphism of PTPN22 gene and systemic lupus erythematosus (SLE) in the Southwest of Iran.
The current study included 120 patients with SLE and 120 healthy volunteers as a control group. Genomic DNA was extracted and the genotyping was performed based on the PCR-restriction fragment length polymorphism (PCR-RFLP) method.
Frequency of 1858T allele (P Statistical analysis showed no relationship among gender, genotype, and SLE risk. However, there was a significant relationship between age and the SLE risk (P = 0.006).

Kisspeptins, encoded by KISS1 (kisspeptin) gene binds to its receptor KISS1R (kisspeptin receptor also known as a G-protein coupled receptor GPR54), that is expressed by gonadotropin-releasing hormone (GnRH) neurons and motivates GnRH release. KISS1 and its receptor play a critical role in the regulation of fertility and the mammalian reproductive axis activation, thus affecting fertility and reproduction in human and other species. Mutations in KISS1 gene and its receptor can be as a cause for infertility. However, there is only a limited amount of information available regarding the KISS1 gene mutations and its polymorphisms. The aim of our study was to determine the association of A → G single-nucleotide polymorphism (SNP) Q36R at exon 4 KISS1 gene (rs35431622) polymorphism in KISS1 gene with idiopathic infertility in women from a northern Iranian population.
Sixty-four idiopathic infertile women were found as a case group and 60 fertile women as control ones. Blood samples were taken, DNA was extracted, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was done in order to assess the polymorphism.
Heterozygous SNP at nucleotide A to G was identified in the DNA of 6 women from 64 infertile women, and in 2 from 60 women in the control group (P value: 0.31).
The results suggested that Q36R (rs35431622) KISS1 gene has no association with female infertility in northern Iran. Because of distinctive gene pools in different geographic populations, results can be different in other investigations.

The present study focused on Staphylococcus phage genomes, which have been classified to 3 categories on the basis of their size. Overall, 18 classes of II Staphylococcus phage genomes with genome size around 40 kbp were investigated to elucidate the presence, distribution, and complexity of SSRs therein. The full length genome sequences from NCBI were analyzed using the IMEx software. A total of 3656 simple sequence repeats (SSRs) and 213 compound SSRs (cSSR) were present in the studied genomes. The incident frequency of SSR and cSSR per genome ranged from 183 to 308 and 8 to 19, respectively. The SSRs distribution across genomes was non-linear and so was its conversion to cSSR (the range of cSSR percentage was from 4.15 to 9.13) implicating a non-uniform incidence and clustering in genomes. The AT rich content of genomes was reflected in the prevalence of repeats with A, AT/TA, and AAG/GAA being the highest represented mono-, di-, and tri-nucleotide repeat motifs, respectively. An increase in dMAX was accompanied by greater cSSRs in the genomes yet the increase was neither uniform across genomes nor linear. The SSRs and cSSRs are predominantly localized on the coding region. The non-coding region accounts for ~ 19% in SSR and ~ 30% in cSSR while a hypothetical protein accounted for ~30% in SSRs as well as cSSR. The relative frequencies and distribution of different classes of simple and compound microsatellites within and across genomes are suggestive of these sequences being involved in genome evolution and adaptation.

Obesity is an energy imbalance disorder that happens due to deficiency of energy intake and consumption. Leptin is an important hormone that regulates energy expenditure. Leptin through its receptors located in the hypothalamus regulates appetite and energy consumption.
In this study we tried to determine the association of leptin receptor (LEPR) gene polymorphisms (rs1137101), Lys223Arg and Gln109Arg (rs1137100), with overweight and obesity.
We examined the two polymorphisms in 240 subjects consisting of obese, overweight, low-weight, and normal weight (as control) subjects among students of Zanjan Islamic Azad University. For Genotyping, we used PCR-RFLP. Statistical analysis was performed using t-test and chi-square test to show any significant difference between the groups.
There was no significant difference in allelic and genotypic frequency of Gln109Arg polymorphism (by A > G substitution) between our study groups. In Lys223Arg polymorphism by A > G substitution, the frequency of AG genotype was higher in the normal group, and the frequency of AA genotype was higher in the obese and overweight groups; but, there was no significant difference in GG genotype and allelic frequency (P In our population, Lys223Arg polymorphism of LEPR gene was associated with obesity; Gln 223 of leptin receptor gene was located in the extra cellular part of receptor and substitution of Glu by Arg in this position might affect leptin signaling. Lys/Arg heterozygote might have protective effects.

Recurrent miscarriage is defined as a condition with two or more consecutive abortions before the 20 weeks of gestation. Recurrent miscarriage is a multi-factorial disease, which occurs in approximately 1% - 2% of women at the reproductive age. Congenital infection is one of the most important factors in the recurrent miscarriages.
The aim of this study was to investigate the effects of rubella, cytomegalovirus, and toxoplasma infections on recurrent miscarriage in Bonab county.
This is a case-control study. Blood samples from a total of 100 women with recurrent miscarriage and 100 healthy women aged 20 to 35 years were taken and serum were separated. Antibodies against Rubella, Cytomegalovirus, and Toxoplasma were read by direct enzyme-linked immunosorbent assay (ELISA). Finally, data were statistically analyzed.
A total of 31 patients and 14 controls were positive for IgG antibodies against Toxoplasma. In addition, 27 persons in the patient group and 11 in the control group were positive for the presence of IgG antibodies against Cytomegalovirus. A total of 29 patients and 11 controls were positive for IgG antibodies against Rubella.
In this study, there was a significant difference in the prevalence of anti-Rubella, Cytomegalovirus, and Toxoplasma antibodies between women with recurrent miscarriage and healthy women.

Cholesteryl ester storage disease (CESD) is a disorder in which cholesteryl esters (CE) and triglycerides (TG) are preserved particularly in hepatocytes. The exact clinical manifestation is not known due to a lack of sufficient data. The current study presents 3 new cases of CESD with 2 of them being siblings. All had perturbed serum low-density lipoprotein (LDL), lactate dehydrogenase (LDH), triglyceride, and cholesterol. Hepatosplenomegaly was seen in all the patients. Liver biopsy showed fat storage in hepatocytes. Adrenomegaly or adrenal calcification, portal hypertension, esophageal varices, and hepatic scarring were not observed in any of the patients. Histopathologic features of CESD, including fat storage in hepatocytes, could characterize these patients.