Background & Aims: Tyrosinase is the most important enzyme in the production of pigments of the skin, eyes, and hair follicles. The enzyme is encoded by tyrosinase gene (TYR) or oculocutaneous albinism type 1A (OCA1A). Mutations in TYR gene result in pigmentation disorders such as albinism in humans. In view of the large number of mutations reported in this gene, the aim of this study was to id...

AIM To establish the allele distribution and statistical parameters of forensic interest for the D10S1248, D22S1045, D2S441, D1S1656, D12S391, and SE33 loci in Slovenian population and to compare allele frequencies with those from other populations. METHODS We analyzed blood and buccal swab samples from 333 unrelated, healthy Slovenian individuals. All samples were genotyped using the AmpFlST...

Frequencies of polymorphisms at codons 136, 154 and 171 of the prion protein (PrP) gene were studied in 1207 pure-bred and cross-bred Italian Biellese rams, a small ovine breed of about 65 000 head in Italy. Aside from the five most common alleles (VRQ, ARQ, ARR, AHQ and ARH), the rare ARK allele was also found, with the highest frequency reported so far in an ovine breed (2.5 %). ARK/--- genot...

Background and Objective: Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is a class II membrane glycoprotein that binds to insulin α receptor and can interfere in insulin signaling pathway. Transcription factor-7-like 2 (TCF7L2) is a transcription factor which plays a critical role in pancreatic β cell activity. ENPP1 and TCF7L2 gene polymorphisms may have functional role in suscep...

Warfarin is a commonly-prescribed anticoagulant used to treat and prevent thromboembolic events. The requirement for varying doses of warfarin depends on genetic and environmental components. In this study, the frequency of two single-nucleotide polymorphic variants of the vitamin K epoxide reductase complex subunit 1 (VKORC1) gene (1173 C>T (rs9934438) and 3730 G>A (rs7294)) and its correlatio...

The aim of this study was to investigate the occurrence of ambiguous allele combinations at the allele group level of HLA-A, -C and -B loci in the Macedonian population. The DNA samples of 214 healthy unrelated Macedonian volunteers were obtained from our DNA Bank. HLA typing was performed using the IHWG-RLS method (Reverse Line Strip, Roche Molecular Systems, USA) consisting of PCR amplificati...

this study was performed to investigate two polymorphic sites from cyp19 gene (pvuii and mspi) and one polymorphic site from erα gene (snabi) in four cattle breeds including mazandarani, taleshi, sistani and simmental. in overall 278 samples for cyp19 and 206 samples for erα marker sites were genotyped using polymerase chain reactionsingle-strand conformation polymorphism (pcr-rflp) procedure. ...

Objective(s): The population in Iran is a genetic admixture of the ancestral Aryan and other populations neighboring Iran. Different ethnic groups in Iran show wide regional distributions for many human leukocyte antigen (HLA) alleles. Therefore, it is necessary and sensible to study the differences in HLA allele distribution in different area. We studied the HLA class I and II allele frequenci...