Factor XI mutation in a Holstein cow with repeat breeding in Japan

Factor XI deficiency is an autosomal recessive coagulopathy in Holstein cattle. Affected cows have a tendency to show repeat breeding. Forty repeat breeding Holstein Friesian cows were selected and tested for the Factor XI mutation. Genomic DNA was isolated from the blood of the cows (n=40). Exon 12 of the Factor XI gene of the cows was amplified by PCR. One repeat breeding cow was heterozygous to the Factor XI mutation as indicated by the presence of two DNA fragments of 320 bp and 244 bp. The insertion of the 76 bp in the heterozygous cow was confirmed by DNA sequencing. The heterozygous cow was in her fourth lactation. She gave birth to male twins at the last calving. She was inseminated artificially four times after the last calving. Factor XI deficiency in cattle has been reported in different countries. However, no case was reported in Japan. This might be the first to report Factor XI mutation in Holstein cattle in Japan.     

中国荷斯坦牛凝血因子XI缺陷症遗传分析

凝血因子XI缺陷症（FactorXIdenciency）是荷斯坦牛的一种常染色体单基因控制的隐性遗传缺陷。该病的遗传基础是由位于牛第27号染色体的凝血因子XI基因外显子12上发生的一段76bp序列插入。本研究采用PCR方法对我国13个主要公牛站的571头荷斯坦公牛的凝血因子XI基因进行了全面检测,未发现隐性有害基因携带者和纯合个体。     

奶牛凝血因子Ⅺ缺乏症研究进展

荷斯坦牛凝血因子Ⅺ缺陷症（FactorⅪdeficiency）是一种常染色体单基因控制的隐性遗传疾病。部分患病牛繁殖性能异常,如屡配不孕、发情周期不稳定、卵泡直径小、排卵前血液中雌激素含量峰值降低、卵泡发育不完善和黄体溶解缓慢等,易患乳房炎、子宫炎和肺炎等,产犊率和犊牛存活率降低。本文综述了该遗传疾病的流行性、致病机理及分子诊断方法。     

Genetic evaluation of heat tolerance in Holstein cows in Japan

We used test‐day records and daily records from provincial weather stations in Japan to evaluate heat tolerance (HT) in Holstein cows according to a random regression test‐day model. Data were a total of 1,641,952 test‐day records for heritability estimates and 17,245,694 test‐day records for genetic evaluation of HT by using milk yield and somatic cell score (SCS) in Holstein cows that had calved for the first time in 2000 through 2015. Temperature–humidity index (THI) values were estimated by using average daily temperature and average daily relative humidity records from 60 provincial Japanese weather stations. The model contained herd–test‐day, with lactation curves on days in milk within month–age group as a fixed effect. General additive genetic effect and HT of additive genetic effect were included as random effects. The threshold value of THI was set to 60. For milk yield, estimated mean heritabilities were lower during heat stress (THI = 78; 0.20 and 0.28) than when below the heat stress threshold (THI ≤ 60; 0.26 and 0.31). For SCS, heritability estimates (range 0.08–0.10) were similar under all heat stress conditions. Genetic trends of HT indicated that EBVs of HT are changing in an undesirable direction.     

中国黑白花奶牛引种改良的遗传分析

本文在文献的基础上,应用主成分分析和聚类分析法,对中国黑白花奶牛引种改良的问题进行分析和总结。结果认为,中国黑白花奶牛与日本黑白花、德国黑白花和丹麦黑白花奶牛比较接近,与美国黑白花奶牛差异较大。用美国黑白花奶牛提高中国黑白花奶牛的乳用性能比较理想。此外,还发现杂交1代所具有的性能表现更接近母亲品种,具有母体效应。     

Failure of Routine Coagulation Screening Tests to Detect Heterozygous State of Bovine Factor XI Deficiency

In a survey of coagulation, biochemical and hematological parameters in cattle homozygous (deficient), heterozygous (carrier) and non-affected (normal) for Factor XI deficiency, only the Activated Partial Thromboplastin Time (APTT) results correlated with plasma Factor XI activity levels. The APTT results and the thrombokinetics for the deficient animals were markedly different from the results of either the carrier or normal animals. However, the APTT assay was shown not to be sufficiently sensitive to differentiate between the normal and carrier state for the coagulation disorder. Not only was there no statistical difference between the mean APTT results for the normal and carrier animals, but the thrombokinetics for fibrin clot formation for the two groups were also similar.     

Identification of factor XI deficiency in Holstein cattle in Turkey

Background

Factor XI (FXI) is a plasma protein that participates in the formation of blood clots. Factor XI deficiency is autosomal recessive hereditary disorder that may be associated with excess bleeding in Holstein cattle.

Methods

In this study, 225 Holstein cows reared in Turkey were screened in order to identify FXI genotypes. DNA extractions were obtained from the fresh blood of the cows. Amplicons of FXI exon 12 were obtained by Polymerase Chain Reaction (PCR), and analyzed by 2% agarose gel electrophoresis stained with ethidium bromide. Additionally, all cows were confirmed by DNA sequencing to determine whether or not there was a mutant allele.

Results

Carriers of the FXI deficiency have two DNA fragments of 320 bp and 244 bp in size. The results of our study demonstrated that only four out of the 225 Holstein cows tested in Turkey carried the FXI deficiency. The frequency of the mutant FXI allele and the prevalence of heterozygous cows were found as 0.9% and 1.8%, respectively.

Conclusion

The DNA-based test determines all genotypes, regardless of phenotype or FXI activity. The mutation responsible for the FXI deficiency had not been detected in Holstein cattle in Turkey before prior to this study. The frequency of the mutant FXI allele needs to be confirmed by carrying out further analyses on cattle in Turkey and the selection programs should be developed to eliminate this genetic disorder.     

荷斯坦奶牛性控冻精人工授精应用效果的研究进展

近年来,对性别控制的研究呈现出迅速发展的趋势。应用性控冻精进行人工授精,是快速增加优质高产奶牛数量的有效途径。奶牛性控冻精的人工授精技术是将奶牛种公牛的精液通过精子分离仪使含X、Y染色体精子得到有效地分离,再将分离后得到的X精子冷冻制成冻精,进行人工授精,从而使母牛怀孕产母犊的技术。     

Coagulation factor XI deficiency in Holstein cattle: expression and distribution of factor XI activity.

Factor XI (F XI) is a plasma protein that participates in the blood coagulation process. A study of the expression of F XI activity in Holstein cattle has confirmed that the inheritance of F XI deficiency is autosomal with severe deficiency in homozygotes (mean F XI level 2%, SD 1%), and partial deficiency in heterozygotes (mean F XI level 38%, SD 10%; normal mean F XI level 94%, SD 21%). In a total of 1469 males evaluated for F XI levels, 47 or 3.1% were identified as heterozygous and only one as homozygous for the disorder. In part because of the lack of a discrete distinction in the expression of F XI between heterozygous and normal animals, not all of the animals tested could be uniquely classified on the basis of the plasma F XI values. A mean F XI value of 53% (SD 7%) was found in a group of animals that were categorized as low normal/high heterozygous. If this group of cattle had been classified on the basis of the criterion used to classify human beings then these animals would have been categorized as heterozygous since the mean F XI value for proven bovine heterozygotes is approximately 20% lower than the values found in the human counterpart. Like the human form of the disease, however, there appears to be a low frequency of hemorrhagic episodes associated with F XI deficiency in cattle.     

中国荷斯坦牛白细胞粘附缺陷病遗传分析

荷斯坦牛白细胞粘附缺陷病（BLAD）是一种遗传性免疫缺陷病，患病牛出生后，生长发育差，绝大多数在1年内死亡，且不具繁殖和哺育能力。该病的遗传基础为CD18基因编码区383位的A／G点突变导致白细胞表面的β2整合素表达缺陷。目前欧美等奶牛业发达国家都已经建立了完善的BLAD分子检测方法和跟踪监控体系。中国长期从国外进口荷斯坦公牛精液、胚胎或活体，由此可能引进了BLAD基因。本研究采用PCR—RFLP方法对116头可疑中国荷斯坦牛进行了检测．确定了2头BLAD携带者公牛和8头携带者母牛．未发现隐性纯合个体．     

Genetic evaluation of the longevity of the Holstein population in Japan using a Weibull proportional hazard model

The objective of this study was to confirm the stability of the genetic estimation of longevity of the Holstein population in Japan. Data on the first 10 lactation periods were obtained from the Livestock Improvement Association of Japan. Longevity was defined as the number of days from first calving until culling or censoring. DATA1 and DATA2 included the survival records for the periods 1991–2003 and 1991–2005, respectively. The proportional hazard model included the effects of the region-parity-lactation stage-milk yield class, age at first calving, the herd–year–season, and sire. The heritabilities on an original scale of DATA1 and DATA2 were 0.119 and 0.123, respectively. The estimated transmitting abilities (ETAs) of young sires in DATA1 may have been underestimated, but coefficient δ, which indicated the bias of genetic trend between DATA1 and DATA2, was not significant. The regression coefficient of ETAs between DATA1 and DATA2 was very close to 1. The proportional hazard model could steadily estimate the ETA for longevity of the sires in Japan.     

奶牛的遗传缺陷

遗传缺陷是指由于生殖细胞或受精卵中的遗传物质发生了结构或功能上的改变。从而使发育成的个体出现解剖结构上的异常或生理机能上的损害。它不同于先天性缺陷，先天性缺陷虽是指个体出生时就表现出的机体结构或功能的异常，但这种异常不一定有典型的家系遗传方式。造成先天性缺陷的原因包括环境因素和遗传因素。     

广州地区娟姗公牛与荷斯坦公牛精液品质的比较研究

本试验选择亚热带气候条件下广州地区的娟姗公牛和荷斯坦公牛各5头,比较两个品种公牛的精液品质(采精量、原精密度、原精活力、细管精液产量、冻后活力、低渗膨胀率及穿透率)。研究表明,荷斯坦公牛每次采精的采精量(16.14±0.06 mL)和细管精液产量(189.17±3.11支)都极显著地高于娟姗公牛(4.74±0.05 mL,158.46±2.64支)(P<0.01);娟姗公牛的原精密度(8.95±0.08亿/mL)极显著地高于荷斯坦公牛(8.32±0.07亿/mL;P<0.01);娟姗公牛原精活力(0.731±0.004)高于荷斯坦公牛(0.729±0.003),但两者差异不显著(P<0.05);娟姗公牛精液的冻后活力(0.355±0.003)极显著高于荷斯坦公牛(0.339±0.003;P<0.01);娟姗公牛冷冻精液的低渗膨胀率(34.50%±0.49%)显著高于荷斯坦公牛(31.21%±0.59%;P<0.01);娟姗公牛冷冻精液对去透明带仓鼠卵的穿透率(84.51%±13.83%)显著高于荷斯坦公牛(81.52%±6.13%;P<0.05)。     

中国荷斯坦牛冷冻精液品质的主成分分析

1前言1.1主成分分析的定义主成分分析也称主分量分析,主要思路是:将分散在一组变量上的信息集中到几个综合指标(主成分)上,所得的综合指标是原来变量的线性组合,以便于利用主成分描述数据的内部结构。它是通过降维方法,把多指标转化为少数几个综合指标(即主成分)的一种多元统计分析方法,即用研究m维的y空间代替p维的X空间(m相似文献   

猪精液性状的遗传参数估计

本研究采用单性状重复力模型和双性状动物模型分别对公猪精液体积、精子活力、精子密度、精子畸形率4个性状进行遗传参数估计,并对不同性状间的遗传相关进行估计。结果显示:精液体积为中等遗传力(遗传力为0.29),精子密度、精子活力和精子畸形率性状具有较低遗传力,遗传力分别为0.10、0.16、0.15;这4个性状均有中等偏高的重复力,分别为0.47、0.42、0.36、0.50。精液体积与精子密度具有较强的遗传负相关(-0.389),精液体积与精子畸形率具有较弱的遗传负相关(-0.171),精子活力与精子畸形率具有强的遗传负相关(-0.826),其余性状均无明显遗传相关。以上结果表明可以通过对精液性状进行选择来提高公猪精液品质。     

Genetic analysis of syndactyly in German Holstein cattle

Congenital syndactyly with a variable number of affected feet was observed in eight black and white German Holstein calves. Analysis of the pedigree data revealed that all affected individuals could be traced back to a single founder. The pedigree was consistent with monogenic autosomal recessive inheritance and variable expressivity. Bovine syndactyly or "mulefoot" has been previously shown to map on the telomeric end of bovine chromosome 15 and we performed PCR genotyping of microsatellite markers spanning 27 cM of this chromosomal region to test the new cases for genetic linkage with the phenotype. The haplotype segregation confirmed the suggested inheritance pattern of the mulefoot mutation in this family and markers RM004, BM848 and BMS820 showed significant linkage to the phenotype. The results confirmed the chromosomal location of the mulefoot gene in this pedigree. Furthermore the study demonstrated that although marker testing has been available for nearly a decade the use of mulefoot carriers in cattle breeding remains uncontrolled. The presented family provides a resource for positional cloning of the causative mutation.