This research aimed to evaluate the prevalence of the most common lethal diseases in the Lithuanian Holstein cattle population. Two hundred non-related (based on the documentation of origin) cattle (cows and heifers) were included in the study. DNA extraction from blood leukocytes was performed using the chloroform salt method. The cattle were tested for three inherited bovine disorders: bovine leukocyte adhesion deficiency (BLAD), deficiency of uridine monophosphate synthase (DUMPS), complex vertebral malformation (CVM). The PCR-RFLP test method was used to determine the polymorphism of the CD18 gene, which is responsible for BLAD inherited disorder development. A recessive allele with point mutation A→G (383), causing BLAD, was found in the Lithuanian cattle population with 0.0025 frequency. CVM disease is determined by the missense mutation, which has been found in the SLC35A3 gene. The study was performed using a sequencing method. A recessive allele with point mutation G→T (538), causing CVM, was found in the Lithuanian cattle population with 0.005 frequency. The PCR-RFLP test method was used to determine the polymorphism of the UMPS gene, responsible for DUMPS inherited disorder development. A recessive allele with point mutation C→T (1213), causing DUMPS, was not found in the Lithuanian Holstein cattle population. Because intensive selection programmes were performed over the previous decade, the number of heritable lethal diseases carriers has significantly decreased.Key words: cattle; bovine leukocyte adhesion deficiency; deficiency of uridine monophosphate synthase; complex vertebral malformation; BLAD; DUMPS; CVM UGOTAVLJANJE POMANJKLJIVE ADHEZIJE GOVEJIH LEVKOCITOV, POMANJKANJA ENCIMA URIDIN MONOPOSFAT SINTETAZE TER KOMPLEKSA MALFORMACIJE VRETENC PRI HOLŠTAJNSKEM GOVEDUPovzetek: Namen raziskave je bil oceniti razširjenost najpogostejših smrtnih bolezni v populaciji litvanskega holštajnskega goveda. V študijo je bilo vključenih dvesto nesorodnih (na podlagi dokumentacije o poreklu) krav in telic. Izolacijo DNK iz krvnih levkocitov smo izvedli z metodo izolacije s soljo in kloroformom. V vzorcih DNK krav in telic smo preverili prisotnost mutacij v treh genih, ki povzročajo naslednje bolezni: motnjo prilepljanja govejih levkocitov (BLAD), pomanjkanje encima uridin monofosfat sintaze (DUMPS) ter kompleksno malformacije vretenc(CVM). Metoda PCR-RFLP je bila uporabljena za določanje polimorfizma gena CD18, ki je odgovoren za razvoj dedne bolezni BLAD. Recesivni alel s točkovno mutacijo A → G (383), ki povzroča bolezen BLAD, je bil ugotovljen v populaciji litvanskega goveda s frekvenco pojavljanja 0,0025. Bolezen CVM je povzročena z drugačno-pomensko mutacijo v genu SLC35A3. Prisotnost mutacije v tem genu smo izvedli z metodo sekvenciranja. Recesivni alel s točkovno mutacijo G → T (538), ki povzroča CVM, je bil ugotovljen v populaciji litvanskega goveda s frekvenco pojavljanja 0,005. Testna metoda PCR-RFLP je bila uporabljena za določanje polimorfizma gena UMPS, ki je odgovoren za razvoj dedne bolezni DUMPS. Recesivni alel s točkovno mutacijo C→ T (1213), ki povzroča DUMPS, ni bil najden v litvanski populaciji holštajnskega goveda. Ker so se v preteklem desetletju izvajali intenzivni selekcijski programi, se je število prenašalcev dednih smrtnih bolezni znatno zmanjšalo.Ključne besede: govedo; moteno prilepljanje govejih levkocitov; pomanjkanje encima uridin monofosfat sintaze; kompleksna malformacije vretenc; BLAD; DUMPS; CVM

Objective: Diabetes mellitus (DM) is a prevalent endocrine condition found in cats. Recent research has identified a connection between a higher risk of diabetes in cats and genetic factors. This genetic susceptibility to type 2 diabetes is associated with genes that control insulin secretion and function, as well as those that impact factors like obesity. The purpose of the study was to determine the prevalence of the melanocortin 4 receptor (MC4R) gene missense mutation among cats and to investigate the relationship between body condition score (BCS) and the occurrence of diabetes in felines. Materials and Methods: Genotype analysis was done for 45 samples. The research results were obtained with the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The 1,200-bp PCR product was cut with BstOI restriction enzyme. Results: Upon analyzing the data, it was found that 37.8% (n = 17) of the subjects carried the MC4R gene mutation. Across the entire population of cats studied, the C allele associated with the mutation was most prevalent in the group of cats with DM (frequency of 0.3) and least common among the clinically healthy cats (frequency of 0.2). Conclusion: After analysis of the study results, a statistically significant difference was observed between cats with DM and clinically healthy cats in the comparison of their BCS (p < 0.05). The association of the MC4R gene polymorphism with overweight and the development of diabetes has been identified.

The study analysed single nucleotide polymorphisms (SNP) of the growth hormone ( GH ) ( GH1 -exon 5, 2141C>G, GH2 -exon 5, 2291A>C, GH3 -intron 3, 1548C>T) and signal transducer and activator of transcription 5A ( STAT5A ) (exon 7, 6853C>T) in three beef cattle breeds (Angus,...

Background and Aim: Cholesterol deficiency (CD) in Holstein cattle, caused by a loss-of-function mutation in the apolipoprotein B (APOB) gene, is a heritable autosomal recessive condition with known implications for fat metabolism and cholesterol transport. This study aimed to investigate the effect of the CD genotype on milk yield components, cholesterol concentration, and somatic cell count (SCC) in Lithuanian Holstein cows, and to determine whether lactation number modulates these relationships. Materials and Methods: A total of 188 cows were classified by lactation: 1st (n = 44), 2nd (n = 50), 3rd and 4th (n = 60), and ≥5th (n = 34). Genotyping for the APOB mutation was conducted using allele-specific polymerase chain reaction. Milk fat, protein, lactose, and SCC were determined using LactoScope Fourier-transform infrared spectroscopy and Somascope methods, while cholesterol concentration was measured by high-performance liquid chromatography. Statistical analysis involved the Kruskal–Wallis H test due to non-normal data distribution. Results: The heterozygous CD genotype was identified in 17.02% of the population, with wild-type and mutant allele frequencies of 0.91 and 0.09, respectively. Non-carriers showed marginally higher fat, protein, and cholesterol levels, with a statistically significant difference in fat content (p = 0.04). When stratified by lactation, significant differences were observed for fat content in the 1st lactation group (p = 0.026), SCC in the 2nd (p = 0.038), and protein content in the 3rd (p = 0.030). No significant variation in milk cholesterol concentration was detected across genotype groups in any lactation group. Conclusion: This study confirms the presence of the CD-associated APOB allele in the Lithuanian Holstein population. While CD status significantly influenced milk fat percentage, its effect on other milk composition traits and SCC was limited. Parity exhibited specific but non-consistent modulating effects. Further large-scale, longitudinal studies are warranted to elucidate the physiological underpinnings of these findings. Keywords: apolipoprotein B gene, cholesterol deficiency, genotype, Holstein cows, milk composition, parity, somatic cell count.