For accurate cytogenetic evaluation of spontaneous abortion materials, an additional technique such as FISH is required in order to confirm the cytogenetic results or to provide an estimate of the error rate in the analysis of miscarriages.

The aim of this study was to evaluate the relationship between apolipoprotein E gene polymorphism and nonalcoholic fatty liver disease. The study group consisted of 237 nonalcoholic fatty liver disease patients who were detected by ultrasonography and 201 controls with ultrasonographically normal livers. DNA amplifications were performed by polymerase chain reaction technique and apolipoprotein E genotypes were evaluated after digestion with CfoI restriction enzyme. Serum levels of glucose, lipids, lipoproteins, and apolipoproteins were measured in all subjects. Additionally, viral hepatitis markers, liver enzymes, and body mass index were assessed. Patients were found to have significantly higher triglyceride, glucose, aspartate aminotransferase, alanine aminotransferase, and gamma-glutamyltransferase levels and lower high-density lipoprotein cholesterol and apolipoprotein (a) levels than controls (P<0.05). There were no statistically significant differences in genotypes and allele frequencies between all patients and controls. Comparing nonobese patients with controls, the frequencies of allele epsilon2 and genotype epsilon2epsilon3 were statistically significantly different in the controls (P=0.04 and P=0.01, respectively). In conclusion, occurrence of the epsilon2 allele and epsilon2epsilon3 genotype may be protective against development of nonalcoholic fatty liver disease.

Major neurological disorders may accompany rare chromosomal abnormalities. As an example of this rare condition, we present a case with microcephaly, mental retardation, developmental delay, hyperactivity, stereotypic movements, seizures and dysmorphic facial appearance in whom a mosaic ring chromosome 18 was found [45,XX,-18/46,XX,r(18)/46,XX,dicr(18)]. Although ring chromosome 18 phenotype has been known for a long time, this is the third reported patient with a dicentric ring chromosome 18 mosaicism. The presented case will contribute to the identification of the genotype-phenotype correlation in chromosome 18 anomalies.

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Objective. The association of DRD2 rs1800497 (TaqIA) polymorphisms and schizophrenia has been studied in a number of populations, but the results are contradictory. We aimed to define Taq IA allelic differences between schizophrenic and healthy subjects. Methods. The schizophrenic group consisted of 99 schizophrenic inpatients, diagnosed and treated at Gazi University Hospital Psychiatry Service, the healthy group was composed of 109 subjects who did not suffer from any psychiatric or organic diseases. High molecular weight genomic DNAs were prepared from peripheral venous blood cells by using proteinase K digestion followed by salt extraction method. Target DNA amplification of DRD2 gene (Taq1A, 310-bp region) was performed by polymerase chain reaction (PCR) with the primers 5014 and 971. Results. Of the 208 subjects involved in the study, 98.6% had A1 allele (hetero- or homo-zygote) and 1.4% had A2 allele (homozygote). While all schizophrenia patients had A1 allele, 97.2%, of the healthy subjects (n=106) had A1 allele and there was no significant difference between the groups. Conclusion. This study was the first study related to DRD2 polymorphism conducted in a Turkish schizophrenic patient sample. A great percentage of our sample has A1 allele. Our study could not find a significant association between schizophrenia and DRD2 rs1800497 polymorphism.