Method to estimate genotype probabilities at individual loci in farm livestock

Summary A Bayesian method to estimate genotype probabilities at a single locus using information on the individual and all its relatives and their mates has been developed. The method uses data over several generations, can deal with large numbers of individuals in large livestock families and allows for missing information. It can be extended to multiple alleles and can be used for autosomal or sex-linked loci. The allele frequencies and the form of expression (dominance, penetrance) must be specified. An algorithm using the method and involving an iterative procedure has been developed to calculate the genotype probabilities for practical use in livestock breeding. The method and algorithm were used to determine the accuracy of estimating genotype probabilities of sires for a female sex-limited trait, such as genetic variants of milk proteins. Data were similated and genotype probabilities estimated for 100 sires (20 replicates) with 3, 6 and 12 female offspring per sire, for different population frequencies, for additive and dominance gene action and for variable genotypic expression. Such simulation is useful in the design of testing systems for the use of information on specific genetic loci in selection.Prepared during a leave at Centre for Genetic Improvement of Livestock, Guelph, Canada     

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing

Here we present a case of an asymptomatic 53-year-old woman who sought genetic testing for Familial Creutzfeldt-Jakob Disease (fCJD) after learning that her mother had fCJD. The patient's mother had a sudden onset of memory problems and rapidly deteriorating mental faculties in her late 70s, which led to difficulties ambulating, progressive non-fluent aphasia, dysphagia and death within ～1 y of symptom onset. The cause of death was reported as “rapid onset dementia.” The patient's family, unhappy with the vague diagnosis, researched prion disorders online and aggressively pursued causation and submitted frozen brain tissue from the mother to the National Prion Disease Surveillance Center, where testing revealed a previously described 5-octapeptide repeat insertion (5-OPRI) in the prion protein gene (PRNP) that is known to cause fCJD. The family had additional questions about the implications of this result and thus independently sought out genetic counseling.

?While rare, fCJD is likely underdiagnosed due to clinical heterogeneity, rapid onset, early non-specific symptomatology, and overlap in the differential diagnosis of Alzheimer disease and Lewy body dementias. When fCJD is identified, a multidisciplinary approach to return of results that includes the affected patient's provider, genetics professionals, and mental health professionals is key to the care of the family. We present an example case which discusses the psychosocial issues encountered and the role of genetic counseling in presymptomatic testing for incurable neurodegenerative conditions. Ordering physicians should be aware of the basic issues surrounding presymptomatic genetic testing and identify local genetic counseling resources for their patients.     

De novo balanced translocation (2;10)(q24;q22) associated with mental retardation

We report a case of a reciprocal translocation between the long arms of the 2 and 10 chromosomes observed in a 14-year-old male with mild mental impairment, compulsive and obsessive behavior. The apparently balanced translocation was characterized by fluorescence in situ hybridization and the karyotype was 46, XY, t(2;10)(q24;q22). The way by balanced chromosomal translocations can lead to a disease phenotype are reviewed and discussed.     

临床医生在基因检测咨询中面对伦理两难问题态度与选择 ——基于情景案例分析

目的 通过情景案例分析,聚焦基因检测咨询中的伦理两难事件,探究临床医生的伦理道德抉择及可能的影响因素。 方法 采用分层随机抽样方法,对624名临床医生进行了匿名问卷调查。 结果 对于XY染色体女性案件,88%的应答者选择告知敏感性信息;对于父系信息的披露,近60%的应答者选择单独告诉母亲;对于是否告知患儿其他亲属相关遗传病信息的案件,应答者的意见则相对分散。 结论 针对三个典型的基因检测咨询中的伦理两难问题,应结合国际相关指南的要求,进一步加大相关的法律与伦理理念、知识的教育与普及。     

Human teratogens: update 2010

A wide variety of human teratogens have been identified. The characteristics of human teratogens can be used in the assessment of apparent “new” teratogens, when postulated. Information is available through online databases, such as TERIS and Reprotox, telephone‐based counseling resources (e.g., Organization of Teratogen Information Systems [OTIS] and European Network Teratology Information Services [ENTIS]), reference books, annual meetings of the Teratology Society, and published articles. There are significant deficiencies in the information available: (1) lack of knowledge about the molecular and cellular basis for most teratogenic effects; (2) the inability to genetically identify more susceptible women before pregnancy; (3) little information is available on dermal and airborne exposures during pregnancy; and (4) most clinicians receive little, if any, training in the identification of or counseling for exposure to potential teratogens. There are many current dilemmas in counseling about exposures in pregnancy, including: (1) Is exposure to specific drugs, such as selected serotonin re‐uptake inhibitors (SSRIs) and the inhibitors of tumor necrosis factor‐alpha, teratogenic in the first trimester of pregnancy? (2) Are the increased risks of birth defects associated with assisted reproductive technology due, in part, to epigenetic effects? (3) What are the “safe” levels of exposure to the plasticizers phthalates during pregnancy? (4) How do we convince busy physicians, nurses, and pharmacists not to use the drug categories A, B, C, D, and X in counseling and to use more accurate sources? There is a need for a national advisory center for pregnancy registries to provide guidance when new registries are being developed. Birth Defects Research (Part A), 2011. © 2011 Wiley‐Liss, Inc.     

团体咨询改善小学生社会技能的实验研究

目的:通过实验研究表明团体咨询对改善小学生社会技能方面有重要作用。方法:某小学四年级一个班作为实验组,共41人(其中男生23人,女生18人)。采用前后测设计。对实验组进行十二次团体心理咨询,采用社会技能等级评定表进行前后测,以前后测结果的对照及受欢迎程度的改变值和喜欢他人程度的改变值作为效果指标。结果:在受欢迎程度上,前后测得分在受欢迎组、被拒绝组、低接纳组和女生中差异显著,被拒绝组学生团体咨询效果要优于受欢迎组的;在喜欢他人程度的改变上,低接纳组学生的团体咨询效果要优于高接纳组的;在受欢迎程度的改变上,女生的团体咨询效果要优于男生。结论:团体心理咨询对小学生社会技能的干预有效;采取班级团体心理咨询的方式,团体咨询的效果在人际关系不良的学生及女生中表现得更为明显。     

Penetrance rate estimation in autosomal dominant conditions

Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance rate K (brief review of the method); 2) construction of exact credible intervals for K estimates; 3) specificity and heterogeneity issues; 4) penetrance rate estimates obtained through molecular testing of families; 5) lack of information about the phenotype of the pedigree generator; 6) genealogies containing grouped parent-offspring information; 7) ascertainment issues responsible for the inflation of K estimates.     

全程心理疏导预防全麻术后导尿管刺激躁动的临床观察

目的:评价全程心理疏导预防全身麻醉术后导尿管刺激躁动的临床效果。方法:全麻下实施胆囊切除手术的80例男性患者为观察对象,随机均分为全程心理疏导组(Ⅰ组)和对照组(Ⅱ组),每组40例。Ⅰ组:术前、麻醉诱导前、苏醒后均对患者施行个体化心理疏导,根据患者具体情况进行沟通,解除其焦虑与恐惧心理。Ⅱ组:常规访视,不进行全程心理疏导。飞利浦多功能监测仪连续监测ECG、HR、SpO2及每3分钟监测一次BP,记录入室后MAP、HR的基础值(T0)、术毕(T1)、拔管后3 min(T2)、10 min(T3)、20min(T4)的血流动力学变化,观察记录拔管后患者因尿管刺激引发躁动评分。结果:Ⅰ组患者苏醒期对尿管刺激反应程度明显低于Ⅱ组,患者在苏醒期血压、心率也较稳定。结论:全程心理疏导可以预防、减轻全麻术后因导尿管刺激而引发的躁动。     

Genomics,ICT and the formation of R&D networks

Research in genomics is an example of changes induced by information and communication technologies (ICT). The emergence of interconnected ICT support for scientific work and the handling of information have changed the challenges in genomics as well as other scientific fields. The promises are significant but a large degree of uncertainty remains. While the information space is opened up, R&D cooperation essential to reaping the benefits for companies is still difficult. Moreover, in order to benefit in full from the possibility to combine knowledge on a larger scale, knowledge repositories and places of knowledge creation need to be combined. This paper discusses the new strategies of information networking between companies that emerges in response to this challenge. It concludes with an outline of a research agenda for genomics and society.