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EN
Bovine leukocyte adhesion deficiency (BLAD) is a well characterized lethal autosomal recessive disease that occurs in Holstein cattle.The discovery of this genetic disorder in 1990 by Kehreli et al. was serendipitous and occured in conjunction with studies of the new methods to prevent mastitis in periparturient dairy cows.In this review article we are attempting to summarise the last 6-year research (1990-1995) covering major aspects of BLAD syndrome, its worldwide prevalence with emphasize on current and future development on BLAD research.
EN
The study was conducted on full-families of Black-and-White cattle obtained as 25 AI sire families and 355 cows, as well as their progenies, mostly heifers at the age of 1-3 months. The sire group was composed by the casual qualification of 10 PRNP 6/6 and 15 PRNP 6/5 individuals on the basis of accessible young progenies. The randomly selected group of cows is characterised by a very high frequency of PRNP 6/6 (74.9%), followed by lower frequency of PRNP 6/5 (24.5%) and a very low frequency of PRNP 5/5 genotype (0.6%). The progenies represent all expected genotypes, such as: PRNP 6/6 (60.5%), PRNP 6/5 (35.8%) and PRNP 5/5 (3.7%), respectively. Taking into consideration the genotypes of parents and progenies, the segregation of PRNP 6 and PRNP 5 alleles was analysed. Results of the non-informative mating variant of male PRNP 6/6 ? female PRNP 6/6 (n = 87) are affected by the PRNP 6/6 progeny genotype in all cases. Subsequently, the results of mating variants male PRNP 6/6 ? female PRNP 6/5 (n = 29) and male PRNP 6/5 female PRNP 6/6 (n = 179) showed statistically non-significant differences in both above-mentioned alternations. The progeny group related from male PRNP 6/5 ? female PRNP 6/5 parental mating obtained fully informative and most valuable results based on the presented research concept. In the common group of 58 calves, the genotype PRNP 6/6 is represented by 26 individuals (44.8 %), PRNP 6/5 ? by 19 individuals (32.8 %) and PRNP 5/5 ? by 13 individuals (22.4 %). Therefore, the theoretical genotype rate (25% : 50% : 25%) is drastically deformed and the differentiation between the observed and expected numbers of animals is statistically highly significant (chi2= 12.72; 2 df.). These differences are affected by two times higher PRNP 6/6 homozygous (chi2 = 9.12; 1 df.) and responsively by the low number of PRNP 6/5 heterozygous animals (chi2 = 3.45; 1 df.). Further investigations are carried out to explain the genetic determination of abnormal PRNP octa-peptide repeat allele segregation, which suggests possible lethal cis-trans linkage effects.
EN
Selective DNA pooling is an advanced methodology for linkage mapping of quantitative trait loci (QTL) in farm animals. The principle is based on densitometric estimates of marker allele frequency in pooled DNA samples of phenotypically extreme individuals from half-sib, backcross and F2 experimental designs in farm animals. This methodology provides a rapid and efficient analysis of a large number of individuals with short tandem repeat markers that are essential to detect QTL through the genome ? wide searching approach. Several strategies involving whole genome scanning with a high statistical power have been developed for systematic search to detect the quantitative traits loci and linked loci of complex traits. In recent studies, greater success has been achieved in mapping several QTLs in Israel-Holstein cattle using selective DNA pooling. This paper outlines the currently emerged novel strategies of linkage mapping to identify QTL based on selective DNA pooling with more emphasis on its theoretical pre-requisite to detect linked QTLs, applications, a general theory for experimental half-sib designs, the power of statistics and its feasibility to identify genetic markers linked QTL in dairy cattle. The study reveals that the application of selective DNA pooling in dairy cattle can be best exploited in the genome-wide detection of linked loci with small and large QTL effects and applied to a moderately sized half-sib family of about 500 animals.
EN
The diacylglycerol o-acyltransferase 1 gene (DGAT1) was investigated in Polish Black-and-White cattle. The frequency of the K allele was 0.60, 0.68 and 0.48 for AI sires (n = 150), young bulls (n = 139) and cows (n = 213), respectively. The method of selective genotyping for identification of the quantitative trait nucleotide was verified through identification of DGAT1 effect on milk production traits. Daughters of six heterozygous bulls were selectively genotyped based on their milk traits. The genotypic frequencies differed between high and low yield groups representing milk and fat contents. The Kruskal-Wallis test revealed a highly significant effect of DGAT1 K232A in cows with extremely low fat content and a significant effect in cows with extremely high protein content of milk. No significant effect of AI sires' genotypes on their breeding value was found.
EN
Expression patterns of candidate genes with important functions in animal metabolism can help to identify potential molecular markers for cattle production traits. Reverse transcription followed by polymerase chain reaction is a method for rapid and accurate mRNA quantification. However, for exact comparison of mRNA quantity in various samples or tissues, it is important to choose appropriate reference genes. In cattle, little information is available on the expression stability of housekeeping genes (HKGs). The aim of the present study is to develop a set of reference genes that can be used for normalization of concentrations of mRNAs of genes expressed in the bovine liver, kidney, pituitary and thyroid. The study was performed on 6-, 9-, and 12-month-old bulls of dairy and meat cattle breeds. Six HKGs were investigated: ACTB, GAPDH, HPRTI, SDHA, TBP, and YWHAZ. The most stably expressed potential reference HKGs differed among tissues/organs examined: ACTB, TBP, YWHAZ, GAPDH, HPRTI, and SDHA in the liver; GAPDH and YWHAZ in the kidney; GAPDH and SDHA in the pituitary; and TBP and HPRTI in the thyroid. The results showed that the use of a single gene for normalization may lead to relatively large errors, so it is important to use multiple control genes based on a survey of potential reference genes applied to representative samples from specific experimental conditions.
EN
We report on a PCR-RFLP procedure for recognising of a silent point mutation of ITGB2 CD18 subunit gene in cattle. Polymorphism screening was performed in a Polish Black-and-White cattle population (n=210). The genotype and allele frequecies were established in the sires and cows. Further research is needed to explain the possible applications of the CD18 silent point mutation as a potential molecular marker for high milk productivity.
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