Genome-wide association study and inbreeding depression on body size traits in Qira black sheep (Ovis aries).

Qira black sheep is a famous indigenous sheep breed in China. The objectives of this study are to identify candidate genes related to body size, and to estimate the level of inbreeding depression on body size based on runs of homozygosity in Qira black sheep. Here, 188 adult Qira black sheep were genotyped with a high density (630 K) SNP chip and genome-wide association study for body weight and body size traits (including withers height, body slanting length, tail length, chest girth, chest width, and chest depth) were performed using an additive linear model. In consequence, 12 genome- and chromosome-wide significant SNPs and, accordingly, six candidate genes involved in muscle differentiation, metabolism and cell processes were identified. Of them, ZNF704 (zinc finger protein 704) was identified for body weight; AK2 (adenylate kinase 2) and PARK2 (parkin RBR E3 ubiquitin protein ligase) for tail length; MOCOS (molybdenum cofactor sulfurase) and ELP2 (elongator acetyltransferase complex subunit 2) for chest width; and MFAP1 (microfibril associated protein 1) for chest girth. Additionally, inbreeding depressions on body size were observed in the current herd. These results will provide insightful understandings into the genetic mechanisms of adult body size, and into the conservation and utilization of Qira black sheep.

Identification of genes associated with litter size combining genomic approaches in Luzhong mutton sheep.

Litter size is one of the most important reproductive traits of sheep, which has pronounced effects on the profit of husbandry enterprises and enthusiasm of breeders. Despite the importance of litter size, the underlying genetic mechanisms have not been entirely elucidated. Therefore, based on a high-density SNP chip, genome-wide comparative analysis was performed between two groups with different fecundity to reveal candidate genes linked to litter size via detection of homozygosity and selection signatures in Luzhong mutton sheep. Consequently, nine promising genes were identified from six runs of homozygosity islands, and functionally linked to reproduction (ACTL7A, ACTL7B, and ELP1), embryonic development (KLF5 and PIBF1), and cell cycle (DACH1, BORA, DIS3, and MZT1). A total of 128 genes were observed under selection, of which HECW1 and HTR1E were related to total lambs born, GABRG3, LRP1B, and MACROD2 to teat number, and AGBL1 to reproductive seasonality. Additionally, the presence of inbreeding depression implies the urgency of reasonable mating system to increase litter size in the present herd. These findings provide a comprehensive insight to the genetic makeup of litter size, and also contribute to implementation of marker-assisted selection in sheep.

[Clinical efficacy of stent-assisted coil embolization for recurrent intracranial bifurcation aneurysms].

Objective: To evaluate the safety and efficacy of stent-assisted coil embolization in patients with recurrent intracranial bifurcation aneurysms,after initial simple coiling or microsurgical clipping. Methods: Clinical data of 20 patients with recurrent intracranial bifurcation aneurysms who initially underwent simple coiling or surgical clipping and subsequently re-treated by stent-assisted coiling embolization at the Radiology Intervention Department of Huashan Hospital between March 2009 and November 2019 were collected and analyzed retrospectively.There were 9 males and 11 females,with a median age of 55.5 years (range:33 to 71 years),including 17 aneurysms initially treated with simple coiling and 3 treated with surgical clipping.All cases were re-treated with stent-assisted coiling,15 using a single stent and 5 employing two stents in a Y-configuration.Peri-and post-operative complications and outcomes were evaluated.Mann-Whitney U tests were performed to compare the follow-up duration between initial treatment and re-treatment.Student's t tests were used to compare the parent artery angles before re-treatment, after re-treatment and at the last follow-up. The parent artery angle was defined using the proximal main trunk and the stented branch. Results: Immediate complete occlusion (Raymond Ⅰ) was achieved in 18 aneurysms (90.0%) while 2 aneurysms (10.0%) had a residual neck (Raymond Ⅱ).The median follow-up time(M(QR)) was 8.5(16.3)months,which had no significantly different from the initial treatment follow-up duration (15.5(27.0)months)(U=157.7,P=0.25). During the follow-up period,2 aneurysms (10.0%) with immediate post-operative residual necks recanalized again,including 1 aneurysm re-treated with the Y-configuration stent.Symptomatic thromboembolic complications occurred in 6 patients,including 4 re-treated with the Y-configuration stent.No peri-operative hemorrhagic complications occurred,along with no operation-related permanent disability or death. The parent artery angle increased significantly from pre-operative(90.1±21.1)°to post-operative and the last follow-up ((115.4±28.9)° and (132.6±26.8)°);t=5.14,P<0.01;t=7.78,P<0.01). Conclusion: For recurrent intracranial bifurcation aneurysms after initial surgical clipping or simple coiling,stent assisted coil embolization is proved to be safe and can decrease recurrence rate.

Neoplasia maligna ginecológica: incidencia en el nuevo milenio: experiencia del servicio oncológico hospitalario (IVSS) / Gynecological malignant neoplasm: incidence in the new millennium: experience of the hospital oncology service (IVSS)

Conocer los indicadores de salud, como una forma de evaluar calidad del servicio que una institución presta a la población. La incidencia, prevalencia y tasas de mortalidad, son tres elementos básicos a conocer, esto permite planificar priorizar las necesidades de una determinada población, mejorando la optimización de recursos y conocer en que eslabón de la historia natural de la enfermedad se puede actuar. Queremos determinar la incidencia registrada en nuestro servicio, desde el 2000 hasta el 2015, de cada una de las patologías malignas atendidas. Un total de 1 824 historias de un universo de 4 911; las restantes no pudieron ser revisadas, por su desincorporación del archivo activo. Apreciamos que la patología con mayor incidencia fue el cáncer de cuello uterino, con un pequeño orcentaje (10 %) iagnosticado en estadio I. Seguidamente encontramos al cáncer de endometrio representando un 12 % de los casos. Dentro de la patología de ovario, el carcinoma epitelial representó el 75 %. El carcinoma de trompa de Falopio solo el 0,3 % de todas las patologías malignas del área inecológica, similar a lo eportado en la literatura mundial. Igualmente el cáncer de vulva, vagina y sarcoma uterino, representaron un escaso porcentaje de incidencia. Este trabajo constituye una fase inicial de investigaciones futuras, en las cuales se deben calcular tasas de upervivencia y período libre de enfermedad, además de incentivar la actualización anual, para evitar sub-registro por la pérdida de datos.(AU)

To know health indicators, is a way to assess the quality of service an institution provides to the population. The incidence, the prevalence and the mortality rates are three basic known elements, which allow you to plan and prioritize the needs of a given population, the improving resource optimization and know that link the natural history of the disease can act. With our research we want to determine the impact registered in our department from the year 2000 to the year 2015, each of the malignant athologies treated. A total of 1 824 stories of a universe of 4 911 were reviewed; the other could not be reviewed by the divestiture of the active file. However, with the data analyzed appreciate that the disease was highest incidence was the cervical cancer, with a small percentage (8 %) diagnosed with stage I, and then found the endometrial cancer representing 12 % of cases. Within pathology ovarian epithelial carcinoma he represented the most frequent with 75 %. The Fallopian tube carcinoma represented only 0.3 % of all malignant gynecological pathologies area, similar to that reported in the literature. Likewise cancer of the vulva, the vagina and the uterine sarcoma, accounted for a small percentage of incidences. This paper is an initial phase of future investigations, which must be calculated survival rates and the disease-free period, in addition to encouraging the annual update, to avoid underreporting by data loss.(AU)

[Clinical efficacy of anterior decompression and stability reconstruction in patients with cervical hyperextension injury].

Objective: To evaluate the clinical efficacy of anterior decompression and stability reconstruction in patients with cervical hyperextension injury. Methods: Postoperative data from 60 patients with cervical hyperextension injury between April 2009 and December 2016 were analyzed retrospectively; the patients included 50 males and 10 females, aged 21-87 years [average, (57±13) years]. All patients had various degrees of spinal cord injury, and were treated with anterior cervical decompression, fusion, and internal fixation.The preoperative and postoperative neurological function were compared to evaluate the clinical efficacy of the treatment.The t test was applied when preoperative and postoperative data were compared. Results: Of the 60 patients, 5 underwent anterior cervical discectomy and fusion, 26 underwent anterior cervical corpectomy and fusion, and 29 received treatment with the hybrid technique.The average follow-up was (5.1±2.1) years (range, 1.6-9.1 years). The American Spinal Injury Association (ASIA) scores, abbreviated injury scale (AIS grades), and Japanese Orthopedic Association Scores (JOA scores) at the 1 week post operation and final follow-up were significantly better than those obtained preoperatively (all P<0.01). The JOA scores before operation and at the final follow-up was 10(7, 11) and 16(14, 17), respectively.Based on the recovery rate of JOA scores, the rate of cure was 28.3% (17 cases), the rate of significant efficiency was 60.0% (36 cases), the rate of efficiency was 8.3% (5 cases), the rate of inefficiency was 3.3% (2 cases). Among the patients showing cure, 5 were satisfied with the life function, however, the extent of their injury was still of Grade D owing to the incomplete recovery of muscle force.Further, when the 60 patients were divided into A and B groups according to whether they had congenital spinal stenosis or not, respectively, and no significant difference was found in ASIA scores, AIS grades and JOA scores between the groups (all P<0.01). Conclusion: Anterior cervical decompression, fusion and internal fixation is safe and effective for cervical hyperextension injury without continuous-type ossification of the posterior longitudinal ligament.

[Effect of smart-phone application on complications of chemoradiotherapy and quality of life in patients with nasopharyngeal carcinoma].

Objective:To investigate the interventional effect of smart-phone application on development of complications of chemoradiotherapy in patients with nasopharyngeal carcinoma (NPC) after discharge.Method:Sixty-five NPC patients receving first chemoradiotherapy were randomly divided into two groups. Control group including 33 patients, use traditional oral Health education. Intervention group including 32 patients, use a smart-phone application after discharge. The smart-phone application with text and graphics was established to conduct health education and dynamically manage discharged patients for promoting themselves health management. Poisonous side reactions and quality of life of two groups were investigated at discharge and 6 months after discharge.Result:There were not significant difference between two groups on complications of chemoradiotherapy and quality of life at discharge. After discharge 6 months, the incidence of oral mucositis, dry mouth, nasal obstruction and difficulty in opening mouth of intervention group were lower than control group significantly, while the quality of life of intervention group higher than control group significantly (P< 0.05). Conclusion:Smart-phone application can reduce complications of chemoradiotherapy, and improve the quality of life in patients with NPC after discharge.

[Effect of APP on prognosis in patients with chronic rhinosinusitis after endoscopic sinus surgery].

Objective:To investigate interventional effect of APP on prognosis in patients with chronic rhinosinusitis after endoscopic sinus surgery. Method:One hundred and forty-four chronic rhinosinusitis patients in our hospital were divided into observation group and control group randomly; observation group had 71 patients, and control group had 73 patients. The control group was treated with standard discharge instruction. In addition to standard discharge instruction, observation group was followed up and directed by using of APP. Two groups' VAS scores and Lund-Kennedy scores were compared in admission time, and 6 months after discharge. Result:There was no significant difference in the Lund-Kennedy scores and VAS scores between the two groups in admission time. However, 6 months after discharge, Lund-Kennedy scores and VAS scores in observation group were obviously lower than control group(P< 0.05). Conclusion:The use of healthy APP can significantly promote patients with chronic rhinosinusitis recovery and re-visit after endoscopic sinus surgery.

Characterization and analysis of differentially expressed microRNAs in hircine ovaries during the follicular and luteal phases.

Ovarian activity, which is mainly controlled by follicle-stimulating hormone and luteinizing hormone, is vital to successful reproduction and maintaining reproductive efficiency in livestock. To determine if the regulation of follicular-luteal transition occurs at the post-transcriptional level in hircine ovaries, the expression patterns of small RNAs in the ovarian tissues of Anhui white goats in the follicular and luteal phases were analyzed using Solexa sequencing. In total, 1039 miRNAs were co-expressed in the two libraries, and 278 and 469 miRNAs were specifically expressed in the hircine ovaries during the follicular and luteal phases, respectively. A total of 43 potential novel miRNAs were predicted in the two libraries. GO annotation and KEGG pathway analysis were applied to analyze the target genes of all miRNAs predicted in the two libraries. The highly and differentially expressed miRNAs included miR-26-5p, miR-145-5p, miR-145, miR-145a-5p, miR-125a-5p, miR-320d, and miR-320c, which may participate in follicular-luteal transition. Five co-expressed miRNAs, of which 2 were differentially expressed between the two libraries, were randomly selected to validate the expression pattern using RT-PCR, and the results were consistent with the Solexa sequencing data. Our present results help to clarify the roles of miRNAs in the regulation of follicular-luteal transition in goat ovaries, which may further enhance the reproductive efficiency of commercially important animals in the future.

MicroRNA-23a enhances migration and invasion through PTEN in osteosarcoma.

To investigate the biological significance of abundant microRNA-23a (miR-23a) expression in osteosarcoma and its correlation with PTEN in the pathogenesis of osteosarcoma migration and invasion. The human osteosarcoma cell lines MG63, HOS58 and SaoS-2, and the human normal osteoblasts (hFOB1.19) were grown in RPMI 1640 medium supplemented with 10% fetal bovine serum. Gene and protein levels of miR-23a and PTEN were examined to determine the molecular relationship between them in the pathogenesis of osteosarcoma. Inhibition of miR-23a effectively reduced migration and invasion of osteosarcoma cell lines. Bioinformatics and luciferase-reporter assay revealed that miR-23a specifically targeted the 3'-untranslational region of PTEN and regulated its expression. Downregulation of PTEN enhanced migration and invasion of osteosarcoma cell lines. Furthermore, in tumor tissues obtained from osteosarcoma patients, the expression of miR-23a was negatively correlated with PTEN and the high expression of miR-23a combined with low expression of PTEN might serve as a risk factor for cancer patients. Besides, miR-23a-mediated suppression of PTEN led to activation of AKT/ERK pathways and epithelial-mesenchymal transition (EMT) in osteosarcoma cells, and finally enhanced the activity of osteosarcoma cell proliferation and movement and promoted osteosarcoma xenograft tumor growth in mouse models. Our study showed that miR-23a, by downregulation of PTEN, enhanced migration and invasion in osteosarcoma cells.

Subtraction suppressive hybridisation analysis of differentially expressed genes associated with puberty in the goat hypothalamus.

The cost of developing replacement nanny goats could be reduced by decreasing the age at puberty because this way nanny goats could be brought into production at an earlier age. The aim of the present study was to screen genes related to puberty to investigate the molecular mechanisms of puberty. Subtracted cDNA libraries were constructed for hypothalami from juvenile (Group A), pubertal (Group B) and age-matched control pubertal (Group E) Jining grey (JG) and Liaoning cashmere (LC) goats using suppression subtractive hybridisation (SSH). Differentially expressed genes were analysed by bioinformatics methods. There were 203 expressed sequence tags (ESTs) in the subtracted cDNA libraries that were differentially expressed between JG and LC goats at the juvenile stage, 226 that were differentially expressed at puberty and 183 that were differentially expressed in the age-matched control group. The differentially expressed ESTs in each subtracted cDNA library were classified as known gene, known EST and unknown EST according to sequence homology in the GenBank non-redundant (NR) and EST database. According to gene function analysis in the COG (Cluster of Orthologous Groups) database, the known genes were grouped into 10 subdivisions in Group A, into seven subdivisions in Group E and into nine subdivisions in Group B under three categories: cellular processes and signalling, information storage and processing, and metabolism. Pathway analysis in the KEGG (Kyoto Encyclopedia of Genes and Genomes) pathway database of known genes revealed that the three pathways that most differentially expressed genes were involved in were metabolic pathways, Parkinson's disease and oxidative phosphorylation. Protein interaction analysis of the high homology genes revealed the most dominant network to be structure of ribosome/protein translation, oxidative phosphorylation and carbohydrate metabolism. The results reveal that the onset of puberty is a complex event involving multiple genes in multiple biological processes. The differentially expressed genes include genes related to both neuroendocrine and energy metabolism.

Epidemiologie des anomalies congenitales dans les centres hospitaliers et universitaires d'Abidjan

Les anomalies congenitales constituent l'une des principales causes de la mortalite infantile dans le monde et particulierement dans les pays en developpement. Objectif principal etait de repertorier toutes les malformations observees dans les trois centres Hospitaliers Universitaires d'Abidjan et a l'institut de cardiologie et les Objectifs secondaires de : - Repertorier leurs caracteristiques epidemiologiques ; - Hierarchiser les pathologies malformatives en fonction de leurs frequences ; - Etablir la mortalite globale de ces pathologies malformatives ; - Etablir la letalite de chacune de ces pathologies malformatives. Patients et methode. Il s'agissait d'une etude retrospective et descriptive sur 10 ans. Les donnees etudiees etaient celles epidemiologiques repertoriees a partir des dossiers medicaux et registres dans les 3 CHU d'Abidjan. Les nouveau-nes de 0 a 28 jours traites pour une anomalie congenitale pendant la periode d'etude etaient la population etudiee. Les donnees ont ete traitees et analysees par les logiciels epi info et Excel. Resultats. De 1996-2006; 1496 nouveaux nes presentant 1589 anomalies congenitales ont ete recenses dans les centres hospitaliers universitaires d'Abidjan. Il s'agissait de nouveau-nes; de meres agees de moins de 35 ans dans 33 des cas; multigestes dans 20 des cas; multipares dans 18 des cas. Les grossesses ont ete regulierement suivies dans 22 des cas et une echographie obstetricale a ete effectuee dans 1 cas sur 4. Le diagnostic prenatal des anomalies congenitales a ete effectue dans 1;5 des cas. Le diagnostic des anomalies congenitales a ete fait dans 79 ;5 des cas a la naissance. Les anomalies congenitales observees etaient : Orthopediques : 33; Neurologiques : 18; Digestives : 14; Faciales : 12;5; Parietales : 12; Urogenitales : 10; Cardiaques : 0;5. - La mortalite globale etait de 52. Les malformations digestives; parietales et neurologiques sont les plus letales Conclusion. les anomalies congenitales existent et sont relativement importantes dans nos structures hospitalieres. Leur diagnostic prenatal reste faible. Elles sont dominees par les anomalies orthopediques. Leur mortalite reste elevee. La mortalite est grevee par une letalite plus importante des pathologies congenitales viscerales

Analysis on DNA sequence of TSHB gene and its association with reproductive seasonality in goats.

Thyroid stimulating hormone beta chain (TSHB) is mainly expressed in pituitary and its expression is closely related to photoperiodic control of seasonal reproduction in animals. In the present study, ten primer pairs have been used to clone the DNA sequence and to detect genetic mutations of goat TSHB gene. Two DNA fragments of goat TSHB gene were obtained, which were 2,614 and 1,031 bp in length, respectively. They comprised about 2.5 kb 5' regulatory region, all of the three exons and two introns. Goat TSHB gene has a coding region of 417 bp, encoding 138 amino acids which was predicted to be a secretory protein with a signal peptide of 16 amino acids. The sequence of TSHB gene is highly conserved among mammals. In addition, five mutations (C53A, 3 bp Indel at the 287-289 locus, 34 bp Indel at the 584-617 locus, A1819C and E2_72TA) were found in goat TSHB gene and they were shown to be in strong linkage disequilibrium. Interestingly, the genotype distributions for both single locus and haplotype have shown to be significant different between seasonal and nonseasonal goat breeds. And haplotype H2 and diplotype H2/H4 may be related to year-round estrus. We preliminarily presumed that the five closely linked mutations of goat TSHB gene may be part of the causal sources for the diversities of reproductive seasonality in goats. Our study may provide a possible efficient genetic way to decrease seasonality in goats.

Analysis on DNA sequence of goat RFRP gene and its possible association with average daily sunshine duration.

Goat RFRP gene was cloned and its mutations were detected in thirteen goat breeds whose reproductive seasonality and litter size were different. Then sequence characteristics were analyzed and association analyses were performed to reveal the relationships between mutations of RFRP gene and average daily sunshine duration, reproductive seasonality as well as litter size in goats. A 4,862 bp DNA fragment of goat RFRP gene was obtained and the complete CDS of 591 bp encodes 196 amino acids, having high homology with that of other mammals. The protein was predicted to be a secreted protein with a signal peptide of 21 amino acids. Moreover, two mutations (A712G, T1493C) in 5' regulatory region and one mutation (A3438T) in exon 2 were detected. The test of genotype distribution in six selective goat breeds showed that there was no uniform significant association between the three polymorphisms and seasonal reproduction. The association just existed in some goat breeds for each locus. Interestingly, however, there was a strong positive correlation (r = 0.830, P = 0.003) between the G allele frequency of the A712G locus and average daily sunshine duration in ten local goat breeds, suggesting that RFRP gene has undergone a selective pressure in sunshine duration and may have indirect relationship with reproductive seasonality in goats. Additionally, no significant difference was found in litter size between genotypes in prolific Jining Grey goats.

Polymorphism of insulin-like growth factor 1 gene and its association with litter size in Small Tail Han sheep.

The insulin-like growth factor 1 (IGF1) gene was studied as a candidate gene for high prolificacy in sheep. Polymorphisms of 5' regulatory region and all four exons of IGF1 gene were detected in Small Tail Han (n = 277), Hu (n = 58), Texel (n = 48) and Dorset (n = 46) sheep by PCR-RFLP and PCR-SSCP analysis. A microsatellite polymorphic site and a restriction fragment length polymorphism were shown in the 5' regulatory region of IGF1 gene. The ewes with genotype 123/123 bp had 0.81 (P < 0.05) or 1.03 (P < 0.01) lambs more than those with genotype 125/125 bp or 125/127 bp, the ewes with genotype 123/125 bp had 0.46 (P < 0.05) or 0.68 (P < 0.01) lambs more than those with genotype 125/125 bp or 125/127 bp. In addition, there were two mutations (C1511G and A1513G) in 5' regulatory region of IGF1 gene. The ewes with genotype BB or AB had 0.96 (P < 0.05) or 0.38 (P < 0.05) lambs more than those with genotype AA, but there were no significant differences between BB and AB genotypes (P > 0.05) in Small Tail Han sheep. These results preliminarily indicated that these polymorphisms of IGF1 gene could be used in molecular marker-assisted selection for sheep breeding programs.

Polymorphism of 5' regulatory region of ovine FSHR gene and its association with litter size in Small Tail Han sheep.

Single nucleotide polymorphisms of 5' regulatory region of follicle-stimulating hormone receptor (FSHR) gene were detected in two high prolificacy sheep breeds (Small Tail Han and Hu sheep) and two low prolificacy sheep breeds (Corriedale and Chinese Merino sheep) by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). The results indicated that there were three genotypes (AA, AB and BB) detected by primer 1 in Hu sheep while only one genotype (AA) in other three sheep breeds, and frequencies of AA, AB and BB genotypes in Hu sheep were 0.700, 0.225 and 0.075, respectively. There were three genotypes (EE, EF and EG) detected by primer 3 in Small Tail Han sheep while only EE genotype occurred in other three sheep breeds, and frequencies of EE, EF and EG genotypes in Small Tail Han sheep were 0.775, 0.200 and 0.025, respectively. No polymorphism was detected in four sheep breeds by primer 2 and primer 4. The sequencing results showed that there were two nucleotide mutations (g. -681T>C and g. -629C>T) in genotype BB compared with AA for primer 1. As for primer 3, two mutations (g. -197G>A and g. -98T>C) in genotype EF compared with EE and two mutations (g. -200G>A and g. -197G>A) in genotype EG compared with EE. The heterozygous ewes with EG or EF had 0.89 (P < 0.05) or 0.42 (P < 0.05) lambs more than homozygous ewes (EE genotype) in Small Tail Han sheep, respectively, while there was no significant difference on litter size between EG and EF ewes.

Predictive potential of microsatellite markers on heterosis of fecundity in crossbred sheep.

Small Tail Han (STH) sheep is a famous Chinese local breed and has perfect prolificacy performance, but it is inferior to imported mutton sheep breeds on meat production. In this study, six imported male sheep populations (White Suffolk, Black Suffolk, Texel, Dorper, South African Mutton Merino and East Friesian) were crossbred with STH female sheep respectively. The heterosis values of litter size, average daily gain (ADG) and feed conversion ratio (FCR) of crossbred sheep were analyzed for seeking the optimal cross. Meanwhile 28 microsatellite markers were used to measure the genetic distance between imported populations and STH population. Regression between the genetic distance and heterosis was analyzed for evaluating potential of microsatellite on predicting heterosis. Results showed a significant positive linear correlation (r = 0.892, P < 0.05) between heterosis of litter size and genetic distance D (A) of six crosses. This implied that these microsatellite markers had moderate potential to forecast heterosis of litter size in sheep. Results of this study also indicated that South African Mutton Merino and East Friesian sheep would be the optimal sire breeds for the litter size and might bring the greatest economic benefit in six imported populations; Suffolk sheep could be prior consideration as sire breeds when breeding objective focused on ADG. Finally these results provided valuable information for Chinese sheep industry.

Polymorphisms of STAT5A gene and their association with milk production traits in Holstein cows.

The STAT5A gene was studied as a candidate gene for five milk production traits (milk yield at 305 days, protein percentage, fat percentage, lactose percentage and dry matter percentage) in Holstein cows. According to the sequence of bovine STAT5A gene, two pairs of primers (P1 and P2) were designed to detect polymorphisms of STAT5A gene in 401 Holstein cows by PCR-RFLP and PCR-SSCP. The results showed that the products amplified by primers P1 and P2 displayed polymorphisms. For P1, three genotypes (AA, AG, and GG) were detected, and the frequency of AA/AG/GG was 0.252/0.486/0.262, respectively. Sequence analysis revealed a single nucleotide substitution A-G at 14217 bp (GenBank NC_007317) of bovine STAT5A gene while compared GG genotype with AA genotype. The differences of the least squares means for the four milk production traits (milk yield at 305 days, fat percentage, lactose percentage and dry matter percentage) between AA, AG and GG were not significant (P > 0.05). Least squares mean of protein percentage for AG or GG was significantly higher than that for AA (P < 0.05); the difference of the least squares mean for protein percentage was not significant between AG and GG (P > 0.05). For P2, three genotypes (CC, CT, and TT) were detected in Holstein cows, and the frequency of CC/CT/TT was 0.751/0.234/0.015, respectively. Sequencing revealed an insertion CCT at 17266 (NC_007317) of bovine STAT5A gene while compared CC genotype with TT genotype. The differences of the least squares means for the three milk production traits (protein percentage, lactose percentage and dry matter percentage) between CC, CT and TT were not significant (P > 0.05). Least squares mean of milk yield at 305 days for TT or CT was significantly higher than that for CC (P < 0.05); the difference of the least squares mean for milk yield at 305 days was not significant between TT and CT (P > 0.05). Least squares mean of fat percentage for CC or CT was significantly higher than that for TT (P < 0.05); the difference of the least squares mean for fat percentage was not significant between CC and CT (P > 0.05). The results preliminarily indicated that allele G of A14217G polymorphic site of STAT5A gene is a potential DNA marker for improving protein percentage in dairy cattle, 17266indelCCT polymorphic site of STAT5A gene is a potential DNA marker for improving milk yield at 305 days and fat percentage in dairy cattle.

Polymorphism of exon 2 of BoLA-DRB3 gene and its relationship with somatic cell score in Beijing Holstein cows.

In the present study, the exon 2 and 3' end sequence of intron 1 of BoLA-DRB3 gene of 211 Beijing Holstein cows was amplified and a uniform fragment of 284 bp was obtained. The genetic polymorphism was investigated by PCR-RFLP using two restriction endonucleases HaeIII and BstYI. Seven genotypes were detected by digesting the PCR products with HaeIII. The frequency of AA, AB, AC, AD, BB, BC and BF genotypes was 0.4638, 0.0193, 0.0193, 0.3478, 0.0290, 0.0386 and 0.0822, respectively. Three genotypes were found by digesting the PCR products with BstYI. The frequency of AA, AB and BB genotypes was 0.0569, 0.2844 and 0.6587, respectively. The relationship between the polymorphisms in exon 2 of BoLA-DRB3 gene and somatic cell score (SCS) in Beijing Holstein cows was analyzed by least squares linear model. No significant difference was detected among least squares means of SCS for seven HaeIII-RFLP genotypes (P > 0.05). As for BstYI-RFLP analysis, least squares mean of SCS for AA was significantly lower than that for AB (P < 0.05) or BB (P < 0.05), and no significant difference was detected between AB and BB genotypes (P > 0.05). BstYI AA was the most favorable genotype and BstYI BB was the most unfavorable genotype for mastitis resistance. The information found in the present study is very important for improving mastitis resistance in dairy cattle by marker assisted selection.

Polymorphisms of caprine POU1F1 gene and their association with litter size in Jining Grey goats.

Seven pairs of primers were designed to amplify 5' promoter region, six exons and partial introns and to detect the polymorphisms of POU1F1 gene in five goat breeds with different prolificacy. The results showed that six mutations were identified in caprine POU1F1 gene including C256T in exon 3, C53T and T123G in intron 3, and G682T (A228S), T723G and C837T in exon 6. The former four mutations were novel SNPs in goat POU1F1 gene. The 53 and 123 loci were in complete linkage disequilibrium in five caprine breeds. Regarding the 256 locus, the Jining Grey goat does with genotype CT had 0.66 kids more than those with genotype CC (P < 0.05), while does with genotype GT had 0.63 (P < 0.05) kids more than those with genotype GG at the 682 locus. The present study preliminarily showed an association between allele T at the 256 and 682 loci of POU1F1 gene and high litter size in Jining Grey goats. Totally 16 haplotypes and 50 genotypes were identified at the above six loci in POU1F1 gene of five goat breeds. Three common haplotypes (hap2, hap3 and hap4) were identified in five goat breeds joined. Four specific haplotypes (hap7, hap9, hap11 and hap13) were detected in Jining Grey goats. The predominant haplotype was hap1 (35.29% and 48.25%) in both Jining Grey and Guizhou White goats, while hap4 (50%) in Boer goats, and hap2 (42.86% and 38.75%) in both Wendeng Dairy and Liaoning Cashmere goats. The most frequent genotypes at six loci in the above five goat breeds were hap1/hap2 (14.38%) and hap1/hap4 (14.38%), hap1/hap2 (38.60%), hap4/hap4 (40.91%), hap2/hap4 (26.53%), hap2/hap5 (20.00%), respectively. The Jining Grey goat does with nine genotypes analyzed of POU1F1 gene showed no obvious difference in litter size.