Short communication: Robertsonian translocations, chimerism, and aneuploidy in cattle.

The aim of this study was to evaluate frequencies of Robertsonian translocations, aneuploidy, and chimerism in Holstein-Friesian, Czech Simmental, and different beef breeds in the Czech Republic from 1996 to 2007. A total of 2,425 animals were examined: 2,377 males, (991 Holstein-Friesians, 1,218 Czech Simmental sires, 168 sires of beef breeds) and 48 females. Translocation was found in 10 Czech Simmental sires, 2 Highland, 1 Charolais, and 3 Blonde d' Aquitaine sires, and in 13 females. Chimerism (XX/XY) was found in 9 Czech Simmental sires, and in 5 Holstein-Friesian sires; XXX trisomy was found in 2 heifers and XXY trisomy in 3 Charolais sires. We recommend that animals with such anomalies should be disqualified from siring stock bulls.

[Frequency view on genome changes testing]. / Frekvencní pohled na vysetrení odchylek genomu.

Laboratories dealing with human genome, both inherited and acquired changes, dispose with similar methods and technology. The spectrum of genetic tests is relatively broad and the number of mutations or variants tested differs substantially. Also the number of examinations carried out in individual laboratories varies. Data presented in the tables come from the year 2004 and indicate the number of examinations requested and number of positive results. Many laboratories mentioned in the registry CZDDNAL (http://www.uhkt.cz/lab_a_vysetreni/nr lab_dna_diag/dna_lab_db) perform the same tests but there is also a great number of tests carried out by only one laboratory. Reasons of the request, cost-effectiveness and clinical utility of genetic testing is being discussed.

Tobacco smoking strongly modifies the association of prothrombin G20210A with undetermined stroke: consecutive survivors and population-based controls.

OBJECTIVE: Due to contradictory results of previous studies evaluating the association between ischemic stroke (IS) and thrombophilic polymorphisms, their routine screening in IS patients, particularly those older than 60 years, is not recommended. We evaluated the differences in the distribution of rs6025 and rs1799963 polymorphisms according to IS subtypes and their interaction with smoking. METHODS: We conducted a case-control study of 423 hospital-based consecutive survivors of their first-ever IS and 614 population-based controls. Survivors (18-81 years) with IS documented by brain imagining were examined at a median of 16 months after the index event. The stroke subtype was categorized using the Causative Classification of Stroke System. Controls (50-75 years) were free of a history of stroke/TIA, coronary heart disease, and venous thromboembolism. RESULTS: Age- and gender-adjusted prevalence of individuals carrying at least one copy of the rs1799963A minor allele was 5.3% among stroke survivors (by subtypes: 3.1% in large artery atherosclerosis, 2.0% in cardio-aortic embolism, 2.4% in small artery occlusion, and 10.3% in undetermined stroke) vs. 2.4% among controls. In multinomial multivariate adjusted analysis, rs1799963 was exclusively associated with undetermined stroke (OR: 3.67; 95% CI: 1.52-8.85; p = 0.004). There was strong evidence of rs1799963 × smoking synergistic interaction (OR: 5.14; 95% CI: 1.65-16.01; p = 0.005). There was no association of rs6025 with IS in general, or with any subtype. CONCLUSIONS: In our consecutive IS survivors, carriage of the rs1799963A allele is associated with undetermined stroke. This effect appears to be confined to smokers.

[Asymmetry of the digits in pigs as a hereditarily conditioned variation in the anatomic structure of the extremities]. / Asymetrie spárku prasat, dedicne podmínená odchylka anatomické stavby koncetin.

As follows from the population statistical investigation performed within the management information system, defects of the anatomic structure of the feet occur in the pig population of all breeds and cross combinations kept in the Czech Socialist Republic: the frequency of this occurrence is relatively higher than 4.4% (1984) and 3.8% (1985) of all litters affected by some of the genetic defects. In some populations different degrees of claw asymmetry occur in more than 40% of the individuals. Environmental conditions contribute to the severity of the defect (technology, particularly the type of floor), but the disposition is genetically conditioned. Prevention should mainly be based on the negative selection of the carriers of the undesired disposition. Working on this study, we used the results of the population statistical processing of the reports on the hereditary defects of pigs and the results of our own observations. In the former case the data concerned 29,778 pig litters, in the latter case 7343 pigs of the Large White, Landrace, Duroc and Prestice Black-Pied breeds.

The frequencies of six important thrombophilic mutations in a population of the Czech Republic.

The primary aim was to determine frequencies of mutations related to risk of venous thrombosis in healthy Caucasians in Central Bohemia. In a cohort of 1527 healthy individuals the frequency of risk alleles for the mutations FV Leiden and FII 20210G>A was 4.5% and 1.3%, respectively. Frequency of 4G PAI-1 allele was 55.5%. Genotype frequencies were: GG 91.03%, GA 8.91%, and AA 0.07% for FV Leiden; GG 97.45%, GA 2.49%, and AA 0.07% for FII 20210G>A; 4G/4G 30.26%, 4G/5G 50.56%, and 5G/5G 19.19% for PAI-1. Frequency of the risk allele A in polymorphism SERPINC1 (IVS +141G >A) was 11.3%, and frequencies of genotypes were as follows: GG 78.36%, GA 20.66%, and AA 0.98%. Frequency of the risk allele T for polymorphism GP6 13254T>C was 87.7%, and frequencies of genotypes were as follows: TT 77.14%, TC 21.15%, and CC 1.70%. Frequency of the risk allele A in polymorphism CYP4V2 (Lys259Gln) was 65.2%, and frequencies of genotypes were: CC 12.25%, CA 45.12 %, and AA 42.63%. All observed genotypes and alleles frequencies were without gender differences. Their occurrences confirm a relatively high prevalence of hereditary thrombophilia predisposition in the Czech Republic.

Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic.

Genotyping was carried out for glycogen storage disease type II and type V in seven cattle breeds. The analysis was carried out using the polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) method. In the breeds analysed [Charolais, Czech Spotted (Czech Simmental), Belgian Blue, Limousine, Blonde d'Aquitaine, Aberdeen Angus, and Beef Simmental sires reared in the Czech Republic], the recessive allele was not found in the PYGM (phosphorylase glycogen, muscle) responsible for the glycogen storage disease type V. In the same panel, the recessive allele in exon 7, exon 9 and exon 13 of the GAA (glucosidase alpha, acid), causing the glycogen storage disease type II was not found. Therefore, we have not revealed the recessives outside previous reported breeds. The knowledge of the breed-specific occurrence of inherited disorders facilitates focusing and reduces the costs of detecting the heterozygous carriers of recessive inherited disorders.