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1.
J Dairy Sci ; 107(6): 3768-3779, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38246543

RESUMEN

A recessive haplotype resulting in elevated calf mortality but with apparent incomplete penetrance was previously linked to the end of chromosome 16 (78.7-80.7 Mbp). Genotype analysis of 5.6 million Holsteins indicated that the haplotype was common and traced back to 1952, with a key ancestor born in 1984 (HOUSA1964484, Southwind) identified from chip genotypes as homozygous for the suspect haplotype. Sequence data from Southwind (an affected calf) and the sire of the affected calf were scanned for candidate mutations. A missense mutation with a deleterious projected impact at 79,613,592 bp was homozygous in the affected calf and heterozygous in the calf's sire and Southwind. Sequence data available from the Cooperative Dairy DNA Repository for 299 other Holsteins indicated a 97% concordance with the haplotype and an 89% call rate. The exon amino acid sequence appears to be broadly conserved in the CACNA1S gene, and mutations in humans and mice can cause phenotypes of temporary or permanent paralysis analogous to those in calves with the haplotype causing muscle weakness (HMW). Improved methods for using pedigree to track new mutations within existing haplotypes were developed and applied to the haplotypes for both muscle weakness and Holstein cholesterol deficiency (HCD). For HCD, concordance of the gene test with its haplotype status was greatly improved. For both defects, haplotype status was matched to heifer livability records for 558,000 calves. For HMW, only 46 heifers with livability records were homozygous and traced only to Southwind on both sides. Of those, 52% died before 18 mo at an average age of 1.7 ± 1.6 mo, but that death rate may be underestimated if only healthier calves were genotyped. The death rate was 2.4% for noncarriers. Different reporting methods or dominance effects may be needed to include HMW and other partially lethal effects in selection and mating. Direct tests are needed for new mutations within existing common haplotypes because tracking can be difficult even with accurate pedigrees when the original haplotype has a high frequency.


Asunto(s)
Enfermedades de los Bovinos , Haplotipos , Debilidad Muscular , Animales , Bovinos/genética , Debilidad Muscular/veterinaria , Debilidad Muscular/genética , Enfermedades de los Bovinos/genética , Femenino , Mutación , Genotipo , Masculino
2.
J Dairy Sci ; 105(2): 1338-1345, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34955244

RESUMEN

A new undesirable genetic factor, neuropathy with splayed forelimbs (JNS), has been identified recently in the Jersey breed. Calves affected with JNS are unable to stand on splayed forelimbs that exhibit significant extensor rigidity and excessive lateral abduction at birth. Affected calves generally are alert at birth but exhibit neurologic symptoms, including spasticity of head and neck and convulsive behavior. Other symptoms reported include dislocated shoulders, congenital craniofacial anomalies, and degenerative myelopathy. Inheritance of an undesirable genetic factor was determined from a study of 16 affected calves reported by Jersey breeders across the United States. All of their pedigrees traced back on both paternal and maternal sides to a common ancestor born in 1995. Genotypes revealed that JNS is attributable to a specific haplotype on Bos taurus autosome 6. Currently 8.2% of the genotyped US Jersey population are carriers of the haplotype. Sequencing of the region of shared homozygosity revealed missense variant rs1116058914 at base 60,158,901 of the ARS-UCD1.2 reference map as the most concordant with the genetic condition and the most likely cause. The single-base G to A substitution is in the coding region of the last exon of UCHL1, which is conserved across species. Mutations in humans and gene knockouts in mice cause similar recessive symptoms and muscular degeneration. Since December 2020, carrier status has been tracked using the identified haplotype and reported for all 459,784 genotyped Jersey animals. With random mating, about 2,200 affected calves per year with losses of about $250,000 would result from the 1.3 million US Jersey cows in the national population. Selection and mating programs can reduce numbers of JNS-affected births using either the haplotype status or a direct gene test in the future. Breeders should report calf abnormalities to their breed association to help discover new defects such as JNS.


Asunto(s)
Miembro Anterior , Patrón de Herencia , Animales , Bovinos/genética , Femenino , Genotipo , Haplotipos , Ratones , Mutación , Estados Unidos
3.
J Dairy Sci ; 104(4): 4478-4485, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33612229

RESUMEN

Marker sets used in US dairy genomic predictions were previously expanded by including high-density (HD) or sequence markers with the largest effects for Holstein breed only. Other non-Holstein breeds lacked enough HD genotyped animals to be used as a reference population at that time, and thus were not included in the genomic prediction. Recently, numbers of non-Holstein breeds genotyped using HD panels reached an acceptable level for imputation and marker selection, allowing HD genomic prediction and HD marker selection for Holstein plus 4 other breeds. Genotypes for 351,461 Holsteins, 347,570 Jerseys, 42,346 Brown Swiss, 9,364 Ayrshires (including Red dairy cattle), and 4,599 Guernseys were imputed to the HD marker list that included 643,059 SNP. The separate HD reference populations included Illumina BovineHD (San Diego, CA) genotypes for 4,012 Holsteins, 407 Jerseys, 181 Brown Swiss, 527 Ayrshires, and 147 Guernseys. The 643,059 variants included the HD SNP and all 79,254 (80K) genetic markers and QTL used in routine national genomic evaluations. Before imputation, approximately 91 to 97% of genotypes were unknown for each breed; after imputation, 1.1% of Holstein, 3.2% of Jersey, 6.7% of Brown Swiss, 4.8% of Ayrshire, and 4.2% of Guernsey alleles remained unknown due to lower density haplotypes that had no matching HD haplotype. The higher remaining missing rates in non-Holstein breeds are mainly due to fewer HD genotyped animals in the imputation reference populations. Allele effects for up to 39 traits were estimated separately within each breed using phenotypic reference populations that included up to 6,157 Jersey males and 110,130 Jersey females. Correlations of HD with 80K genomic predictions for young animals averaged 0.986, 0.989, 0.985, 0.992, and 0.978 for Jersey, Ayrshire, Brown Swiss, Guernsey, and Holstein breeds, respectively. Correlations were highest for yield traits (about 0.991) and lowest for foot angle and rear legs-side view (0.981and 0.982, respectively). Some HD effects were more than twice as large as the largest 80K SNP effect, and HD markers had larger effects than nearby 80K markers for many breed-trait combinations. Previous studies selected and included markers with large effects for Holstein traits; the newly selected HD markers should also improve non-Holstein and crossbred genomic predictions and were added to official US genomic predictions in April 2020.


Asunto(s)
Genómica , Polimorfismo de Nucleótido Simple , Animales , Bovinos/genética , Femenino , Genotipo , Guernesey , Masculino , Fenotipo , Polimorfismo de Nucleótido Simple/genética
4.
Arch Razi Inst ; 76(4): 871-877, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-35096322

RESUMEN

The importance of influenza viruses in respiratory infections in the Middle East, including Iraq, has been historically overlooked. Nowadays, with the pandemic of corona virus disease 2019, the importance of prevention from other respiratory diseases, such as seasonal influenza, can be a critical step in the health management system. Therefore, this study aimed to evaluate the prevalence and seasonal occurrence of influenza viruses in the Iraqi population presented with influenza-like illness (ILI) or severe acute respiratory infection (SARI)within2015-2017. Moreover, this study was conducted to identify the periods with increased influenza transmission for vaccination recommendations in Iraq. In the present study, we presented the cases of infection by influenza A or B viruses. To test influenza virus types A (H1N1 and H3N2) and B, 1,359 throat and nasal swabs were collected from patients with ILI or SARI. Ribonucleic acid was extracted and amplified using a set of primers and probes. The frequency rates of infection were obtained at 1,616 (45%) and 1974 (55%) in females and males, respectively. The mean age of the participants was estimated at 31.71±22.68 with a minimum and maximum ages of 1 month and 96 years, respectively. It was revealed that influenza virus type A was the most predominant with an incidence of 16.2%, followed by type B with 0.33% incidence. It was also found that December was the most prevalent month of being infected by influenza viruses types A and B (30.02% and 0.48%, respectively). Vaccination in September would likely protect the highest number of patients. It was clear that the influenza A virus was predominant over type B. In Iraq, influenza A and B viruses were found in a large percentage of ILI and SARI cases. Additionally, males were reported to be more likely to become infected than females.


Asunto(s)
Gripe Humana , Síndrome Respiratorio Agudo Grave , Femenino , Masculino , Subtipo H1N1 del Virus de la Influenza A , Subtipo H3N2 del Virus de la Influenza A , Irak/epidemiología , Estaciones del Año , Humanos , Lactante , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Virus de la Influenza A/aislamiento & purificación , Virus de la Influenza B/aislamiento & purificación , Gripe Humana/virología , Síndrome Respiratorio Agudo Grave/virología
5.
Saudi Med J ; 29(1): 94-7, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18176681

RESUMEN

OBJECTIVE: To evaluate the levels of some essential elements in thalassemic patients in Mosul, Iraq. METHODS: One hundred and five thalassemic blood transfusion dependent children, 2.5-18 years of age attending Ibn-Al-Atheer teaching hospital in Mosul City, Iraq, during 2005, were used in this study. Fifty-four healthy subjects served as a control group. Patients were allocated in a non-randomized prospective cross-sectional hospital based study. Essential elements levels were estimated. The mean, standard deviation, correlation coefficient, and z-test were used. P-values <0.05 were considered statistically significant. RESULTS: Low serum zinc, and magnesium, and high serum copper, and potassium levels were found among the 105 thalassemic patients compared to the 54 controls. Levels of calcium, phosphate, and sodium were within normal limits. CONCLUSION: Fluctuations in the essential elements levels seem to be related to the different complications associated with the disease. Zinc deficiency may be attributed to hyperzincuria resulted from the release of Zn from hemolyzed red cells. Hypercupremia occurs in acute and chronic infections and hemochromatosis, which is a principal complication of thalassemia. Increased Na levels may be due to renal damage. Hypomagnesemia may occur due to hypoparathyroidism.


Asunto(s)
Oligoelementos/sangre , Talasemia beta/sangre , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Cobre/sangre , Femenino , Humanos , Irak , Magnesio/sangre , Masculino , Potasio/sangre , Estudios Prospectivos , Zinc/sangre
6.
Zoonoses Public Health ; 65(3): 322-333, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29239118

RESUMEN

Since the emergence of Middle East respiratory syndrome coronavirus (MERS-CoV) in 2012, there have been a number of clusters of human-to-human transmission. These cases of human-to-human transmission involve close contact and have occurred primarily in healthcare settings, and they are suspected to result from repeated zoonotic introductions. In this study, we sequenced whole MERS-CoV genomes directly from respiratory samples collected from 23 confirmed MERS cases in the United Arab Emirates (UAE). These samples included cases from three nosocomial and three household clusters. The sequences were analysed for changes and relatedness with regard to the collected epidemiological data and other available MERS-CoV genomic data. Sequence analysis supports the epidemiological data within the clusters, and further, suggests that these clusters emerged independently. To understand how and when these clusters emerged, respiratory samples were taken from dromedary camels, a known host of MERS-CoV, in the same geographic regions as the human clusters. Middle East respiratory syndrome coronavirus genomes from six virus-positive animals were sequenced, and these genomes were nearly identical to those found in human patients from corresponding regions. These data demonstrate a genetic link for each of these clusters to a camel and support the hypothesis that human MERS-CoV diversity results from multiple zoonotic introductions.


Asunto(s)
Infecciones por Coronavirus/virología , Coronavirus del Síndrome Respiratorio de Oriente Medio/genética , Zoonosis/transmisión , Animales , Camelus/virología , Infecciones por Coronavirus/epidemiología , Genoma Viral , Humanos , Filogenia , Emiratos Árabes Unidos/epidemiología
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