Jerzy Janica

X-chromosomal polymorphism data for the ethnic minority of Polish Tatars and the religious minority of Old Believers residing in northeastern Poland

Population samples of 420 unrelated individuals of the ethnic minority of Polish Tatars and the religious minority of Old Believers residing in northeastern Poland were tested for four X-chromosomal STR frequencies by multiplex PCR and subsequent automated fluorescent detection (ABI 310) using a commercially available kit Mentype Argus X-UL. Kinship tests revealed a typical X-linked inheritance with no mutation. Significant differences in allele frequency distributions confirm previous findings regarding genetic variation among ethnic groups residing in northeastern Poland.

Evaluation of Apoptosis Markers in Conjunctival and Eyelid Benign and Malignant Tumors

Abstract: The balance between cell proliferation and programmed cell death plays a crucial role in malignant development. Bcl‐2 family proteins, including proapoptosis protein Bak and antiapoptosis protein Bcl‐2, regulate the apoptotic process. Mutation of the p53 gene, which results in P53 protein accumulation, was observed in many types of human cancer. The aim of our study was to evaluate immunohistochemical Bcl‐2, Bak, and P53 protein expression and the relation between these proteins in conjunctival and eyelid benign and malignant tumors. We examined a series of 42 papillomas (CEP), 12 squamous cell cancers (SCC), and 19 cases of basal cell cancer (BCC). The age in the CEP group ranged from 18–94 years, and in the SCC and BCC groups from 42–87 years. Staining patterns were correlated with sex, age, and tumor localization. P53 protein‐positive immunostaining was observed in 71% of cases, Bcl‐2 in 83.9%, and Bak in 74.2 cases in the SCC and BCC groups. In the CEP group, P53 overexpression was observed in 90.5% of cases, Bcl‐2 in 71.4%, and Bak in 76.2%. No statistically significant correlation was found between examined protein expression and sex, age, and tumor localization. An inverse correlation was observed between P53 and Bak protein expression in the CEP group. No statistically significance correlation was noted between Bcl‐2 and P53 and Bcl‐2 and Bak protein expression in both examined groups. The obtained data suggests that P53 and Bcl‐2 protein expression coupled with decreasing Bak expression are associated with apoptosis and proliferation as well as malignant progression in conjunctival and eyelid tumors.

Loss of heterozygosity (LOH)--implications for human genetic identification.

The aim of this study was assessment of possible effects of loss of heterozygosity on human genetic identification of histolopathogical tissue sections. DNA templates were extracted from tumour tissue specimens excised from oncological patients and from reference blood samples. AmpFlSTR Identifiler PCR Amplification Kit and ABI 310 Genetic Analyzer (Applera) were used to obtain genetic profiles. Frequency of LOH was calculated for respective samples. Fishers exact test was performed for statistical analysis. Forty-two percent of the 101 cancer cases analysed were found to possess alterations of the microsatellites manifesting with allelic loss. The most frequently altered loci were D3S1358 and D18S51. The alteration was detected in 47% of cases with larynx carcinoma, 44% of cases with uveal melanoma, 60% of cases with cervical cancers, one case of liposarcoma G3 and one case od neurofibrosarcoma. No LOH was found in liposarcoma G1, dermatofibrosarcoma and cystosarcoma protuberans in either primary or recurrent tumours. In benign tumours (lipoma and fibroma) LOH was also absent. During genotyping of DNA extracted from histopathological tissue sections caution should be taken when non-match or exclusion based on few discrepancies is concluded.

Genetic data on 10 STRs in a population sample of Old Believers living in the northeastern Poland

Abstract This study provides a 10-STR database for a population sample of Old Believers ( n =116) living in the northeastern Poland. For the FGA and TH01 loci, a departure from HWE was observed. The combined values of the Matching Probability and of the Power of Exclusion are 3.48×10 −12 and 0.9949, respectively. Significant differences were found for FGA and D21S11 between the Old Believers and the autochthonous Polish population by using R×C test.