白化病患者眼睛的治疗

优生优育与人口健康问题关系到千家万户的幸福,这方面的知识是广大读者和网友都十分感兴趣的问题,中国遗传咨询网(www.gcnet.org.cn)经常收到网友的来信,咨询其恋爱、婚姻、生育、子女健康等问题,许多兼职的专家已经义务性免费解答了上千人次的咨询,受到大家的欢迎和好评。为了向广大读者与公众普及优生优育与遗传学知识,本刊和中国遗传咨询网联合开辟“遗传咨询”栏目,从上述咨询案例中挑选有代表性的问题,隐去咨询者的身份,将解答意见予以公布,以供读者参考。大家对此栏目有何意见与建议,请向《遗传》编辑部反映,E-mail:yczz@genetics.ac.cn。如有遗传咨询问题,请登录www.gcnet.org.cn咨询。     

生父血型的分析和计算

在遗传咨询中,有时会遇到这样的亲子鉴定问题,双亲的一方已去世,其血型不清楚,怎样根据孩子和母亲(或父亲)的血型来分析和计算生父(或生母)的可能血型及其概率?本文就这类遗传咨询将给予一些回答。对这类遗传咨询的回答要从四方面入手分析,一是应用已知遗传学的基本规律,如ABO、MN血型的遗传。二是分析清楚系谱关系,尽可能判断出其基因型。三是应用     

中国遗传咨询网——我国首个在线遗传咨询与遗传教育网站的开发

随着互联网的普及, 网络用户已习惯从网上获取相关资讯, 包括求医问药。由于我国的临床遗传学体系尚未完全建立, 许多遗传病患者或遗传咨询者无法得到较为专业的知识和咨询服务。为此, 建立了中国首个提供常见遗传病科普和网上遗传咨询服务的公益性网站—中国遗传咨询网(http://www.gcnet.org.cn)。该网站主要介绍遗传病的基本知识以及常见遗传病的一般情况、临床表现、诊断与防治方法、遗传方式与遗传咨询要点等。通过组织国内外50多名遗传咨询医师或医学遗传学专家, 就咨询者关心的问题, 进行一般性咨询答复, 或指导咨询者就诊。在线遗传咨询是网络时代的一种新型的方式。该网站的运行在一定程度上弥补了我国现有遗传咨询工作的不足, 有助于推动我国临床遗传学、遗传教育和人口与健康事业的发展。     

夏普PC-1500袖珍计算机应用于孢粉学研究一例

孢粉学研究中大量的孢粉统计工作,花费了不少宝贵的时间。为解决这一问题,作者自1984年起编制了一些程序,并使用 PC-1500 袖珍计算机进行反复的实践和修改。本文所提供的程序用BASIC语言编写。程序中设计了蕨类植物孢子、裸子植物和被子植物花粉、疑源类这四大类中任意几类的有关计算,即:某一样品中孢粉的总粒数;各大类的总粒数及其所占的百分含量;各孢粉类型所占的百分含量。计算结果由打印机自动印出。     

动物(大白鼠)在衰老时期高级神经活动方面的若干指标

近年来,年龄生理学问题广泛地引起了人们的兴趣和注意。本所在开展防老方面的研究工作,亦需要解决关于动物在衰老时期的生理变化和生理指标问题。因此本文试图对动物(大白鼠)到老年后高级神经活动方面的特点,进行一些探讨,以便配合相关工作的展开,及为下一步施用抗老药物创造条件。     

从事植物组织培养工作的点滴经验

植物组织培养中常常遇到试管苗的根向上生长和污染率居高不下的问题.如何解决这一问题?我们就自己近年来从事组织培养工作所积累的一些经验作些介绍,以供同行参考.     

参加水稻阶段发育研究工作谈话会纪要

1955年1月在北京举行的植物发育生理座谈会中,几个做水稻发育生理工作的单位曾约定於年底在华南举行一次水稻阶段发育研究工作谈话会。会议的主要任务是——在第一个五年计划粮食增产计划中水稻的比重很大,其中牵涉到关键问题之一是由水稻階段发育研究试验工作提供基本参考资料。并着重(一)交流有关水稻阶段发育研究工作的经验及其存在的问题,并交换对以後试验工作的意见。(二)增加水稻复种面积(包括双季连作稻的品种,播种期等问题)及扩展水稻播种面积中有关水稻发育的一些问题的讨论。会议在广州石牌华南农业科学研究所举行,自1955年12月13日起到16日止,共进行     

综合医院住院患者对自身常见心理问题的评价及其影响因素

本研究主要针对综合医院非精神科住院患者对自身常见心理问题的评价及其影响因素进行调查分析。本研究选取1 329名非精神科住院患者作为调查对象,使其在规定指导语下完成患者健康抑郁症状群量表(depression scale of the patient health questionnaire, PHQ-9)、躯体症状群量表(somatic symptom scale of thepatient health questionnaire, PHQ-15)、广泛性焦虑量表(generalized anxiety disorder 7-item scale, GAD-7)、健康焦虑量表(whiteley-7 scale, WI-7)等自评量表,并回答封闭式问题"您认为自己目前存在心理或者情绪问题吗?"。根据上述两种对自身心理问题评价方式的结果是否一致将患者分为心理问题评价一致组和心理问题评价不一致组。调查得到如下结果:心理问题评价一致组人数占研究总人数的48.3%。通过单因素方差分析和二元Logistic回归分析结果得出,该综合医院非精神科男性住院患者及少数民族患者较女性患者及汉族患者更难意识到自身心理问题(B=-0.227, p=0.044; B=0.643, p=0.022)。本研究说明,加强普及大众心理健康教育,尤其是对非精神科住院患者(特别是男性和少数民族患者)的心理健康教育,使之能正确评价自身心理问题并寻求治疗,是非常有必要的。而非精神科医生则需要更多关注到男性患者和少数民族患者,早期识别并正确处理其心理问题,促进疾病恢复,提高患者满意度。     

利用赤眼蜂防治害虫若干技术问题的探讨

人工繁殖和散放赤眼蜂来防治害虫的工作,近年来在我国不少省、市、自治区已广泛推行,并取得了很好的成效。事实证明,这一方法可作为综合防治某些害虫的一项重要措施。但据了解,有些地方还存在某些技术问题,使防治害虫的效果有时不够理想;如繁殖过程中蜂种退化,繁殖失败等等。若能解决这些问题,这一防治方法将会发挥更大的作用。现将我们历年来在这一工作方面所遇到的一些问题,以及初步解决办法总结报道如下,以供参考。 一、种蜂的采集和培养 (一)采集和试养 赤眼蜂种类颇多,其外形虽然十分相似,且多为多寄主的寄生蜂,但它们的生物学特     

爬行动物温度决定性别的现象与机制

性别决定是生物学的一个核心问题。性别决定模式依据决定因素可以分为基因型性别决定(GSD)和环境型性别决定(ESD)2类。温度依赖型性别决定(TSD)是一种特殊的ESD模式,胚胎性别是由发育过程中所经历的温度决定。简要评述了爬行动物TSD与GSD的关系、TSD的类型、TSD的生理和生态调控以及分子机制,归纳了TSD的各种适应性意义假说,并提出今后TSD研究的重点方向。     

The role of cytochemistry in human genetic research

The role of cytochemistry in human genetics is reviewed. In basic research, autoradiography and cytochemical staining procedures for DNA, RNA, proteins and other cell constituents have contributed to the understanding of the way DNA is localized, duplicated and translated. The development of new "banding techniques" for the identification of human chromosomes and parts of these together with somatic cell hybridization procedures have significantly contributed to the mapping of the human genome. Cytochemical methods have also been of great help in the elucidation of the responsible molecular defects in Mendelian disorders based on a single gene mutation. The combination of immunological methods and electron-microscopical cytochemistry now enables different posttranslational processing defects to be related to various subcellular compartments. Cytochemistry is also likely to be of importance for the direct demonstration of gene mutations using recombinant DNA technology. Examples are given of contributions of cytochemical methods to the early diagnosis and prevention of congenital disorders. The main examples are the early diagnosis of patients with a chromosomal aberration and of carriers with a balanced translocation. Early genetic counseling of couples at risk forms the basis for prevention of subsequent affected children. Cytochemistry also contributes to the early detection of heterozygotes of X-linked mutations. Finally, autoradiography and ultramicrochemical procedures have been of great help in improving the prenatal diagnosis of genetic metabolic diseases.     

The role of cytochemistry in human genetic research

Summary The role of cytochemistry in human genetics is reviewed. In basic research, autoradiography and cytochemical staining procedures for DNA, RNA, proteins and other cell constituants have contributed to the understanding of the way DNA is localized, duplicated and translated. The development of new banding techniques for the identification of human chromosomes and parts of these together with somatic cell hybridization procedures have significantly contributed to the mapping of the human genome.Cytochemical methods have also been of great help in the elucidation of the responsible molecular defects in Mendelian disorders based on a single gene mutation. The combination of immunological methods and electron-microscopical cytochemistry now enables different posttranslational processing defects to be related to various subcellular compartments. Cytochemistry is also likely to be of importance for the direct demonstration of gene mutations using recombinant DNA technology.Examples are given of contributions of cytochemical methods to the early diagnosis and prevention of congenital disorders. The main examples are the early diagnosis of patients with a chromosomal aberration and of carriers with a balanced translocation. Early genetic counseling of couples at risk forms the basis for prevention of subsequent affected children. Cytochemistry also contributes to the early detection of heterozygotes of X-linked mutations. Finally, autoradiography and ultramicrochemical procedures have been of great help in improving the prenatal diagnosis of genetic metabolic diseases.In honour of Prof. P. van Duijn     

Cancer Genetics Education in a Low- to Middle-Income Country: Evaluation of an Interactive Workshop for Clinicians in Kenya

Background

Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, yet there has not been a concomitant increase in genetic counseling resources. To address this gap, we designed an interactive workshop for clinicians in Kenya focused on the genetics of the childhood eye cancer retinoblastoma. The objectives were to increase retinoblastoma genetics knowledge, build genetic counseling skills and increase confidence in those skills.

Methods

The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. It included a retinoblastoma genetics presentation, small group discussion of case studies and genetic counseling role-play. Knowledge was assessed by standardized test, and genetic counseling skills and confidence by questionnaire.

Results

Knowledge increased significantly post-workshop, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline, indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions.

Conclusion

A comprehensive retinoblastoma genetics workshop can increase the knowledge and skills necessary for effective retinoblastoma genetic counseling.     

Genetic screening and genetic counseling: knowledge, attitudes, and practices in two groups of family planning professionals.

67 obstetrical and gynecological physicians and 102 professional staff members of family planning clinics (FPCs) in the Pittsburgh, Pennsylvania, area returned questionnaires relating to knowledge of basic genetic principles and attitudes towards genetic screening and genetic counseling. The best understood genetic risk was Down's syndrome in children born to mothers over 40 years of age. Nearly 90% of physicians and 85% of FPC staff knew this but only 12% of physicians and 30% of FPC staff knew it is caused by chromosomal aberration. Next best understood defect is sickle cell anemia. In overall knowledge the physicians had a mean score of 4.45 of 7 genetic questions, FPC staff, 3.32. However, FPC workers who had received in-service genetic training scored 4.42 (p less than .001). Knowledge of the 2 genetic clinics in the area and acceptance of the principles of genetic screening were associated with the individual's acceptance of sterilization as a method of birth control and acceptance of abortion if the fetus had significant risk of being born deformed. Both of these associations were at the significant level for both physicians and FPC workers. Both physicians and FPC workers who have themselves had genetic counseling or who have family members who have had such counseling show higher acceptance levels. An association was also found between acceptance and genetic educational background. About 92% of respondents who had read articles or textbooks pertaining to genetics during the preceding year approved of including genetic information as part of maternal and child health projects compared with 82% of those who had not (p less than .02). Among the physicians 36% felt it should be required, 34% voluntary, and 30% did not know; for FPC workers, 59, 27, and 14%, respectively. Protestants and Jews tended to favor required premarital screening while Catholics tended to oppose it (p less than .007). It is disconcerting that over 50% of the physicians did not know the recurrence risk of PKU and over 20% did not know the gene is the basic unit of inheritance. While it is true that over 1/2 completed basic professional education more than 20 years ago when genetics was not part of the medical school curriculums this basic knowledge needs to have been acquired during continuing medical education. In this study more than 1/3 of the FPC staff indicated they had been asked to provide genetic counseling or had referred clients. This points up the importance of such workers in a comprehensive genetic counseling service.     

Genetic screening and genetic counseling: Knowledge,attitudes, and practices in two groups of family planning professionals

Abstract

Genetic counseling has evolved from a eugenic orientation to an orientation concerned with the physical and mental well‐being of counselees. This change in genetic counseling, which has received formal recognition in a new definition of genetic counseling, requires collateral development of the processes and evaluation of the outcomes of counseling. This paper offers a theory of genetic counseling which interrelates genetic information, psychological responses, learning theory, and decision‐making. The theory presented for genetic counseling is based on the more general theories of learning, decision‐making, and adaptation to psychological stress. This theory is extended into a practical model that provides a comprehensive explanation of the relationships between the activities of genetic counseling and informed decision‐making, which is assumed to be a major element of healthy counselee adjustment. Implications of this theory for the genetic counselor, the counselee, and the assessment of clinical and program success are discussed.     

A problem-based learning approach to teaching medical genetics.

A newly developed problem-based medical genetics course that was integrated into the fourth-year medical school curriculum of the University of Texas Health Science Center at San Antonio is described. To provide a basic genetic background for the clinical rotations, a supplemental computer tutorial is required during the second year. These two formats prepare the medical students to recognize genetic diseases, to provide basic genetic counseling in their daily practice, and to appropriately refer patients to genetic specialists.     

遗传测试和遗传咨询

遗传物质的突变,包括基因突变或染色体畸变,是遗传病发生的根源,也是区别于其他疾病的基本特点。大力开展遗传测试及筛查,及时检出遗传病患者及致病基因携带者,是提高人口素质,促进家庭幸福、社会繁荣、国家昌盛的唯一可行的方法。遗传咨询对于检出遗传病患者及致病基因携带者,并进行有效、可行的婚姻指导、生育指导,以减少或防止遗传病患儿的发生和发病,发挥着相当重要的作用。在产前诊断中涉及疾病胎儿处理的道德选择问题上,遵循四项基本准则：第一,尊重夫妇双方的选择;第二,对个人和家庭不产生伤害;第三,产前诊断的结果可靠;第四,产前诊断和遗传咨询的自愿性。这些准则无疑在世界各国有着共同性。     

Genetic counseling in the epilepsies

Summary Rules are proposed for genetic counseling in the epilepsics. In a first section, some attempts at subdividing epilepsies by dichotomous classifications are discussed critically. Then, the typical EEG patterns found in epileptic diseases as well as their genetic bases are described. The third section comprises various clearly defined and sufficiently well-described epileptic syndromes. In a fourth section, a kind of record sheet is suggested to help the genetic counselor in planning his procedure. Throughout this review, we have stressed that genetic counseling in the epilepsies should not be confined to risk assessment but should include considerations on course of the disease, prognosis, and chances of therapy.     

Acquired cystic kidney disease —a possible pitfall in genetic counseling

Summary A case of a 24-year-old pregnant woman on dialysis who asked for genetic counseling is reported. Differentiation between nonheritable acquired cystic kidneys and autosomal dominant polycystic kidney disease without noninvasive diagnostic procedures was nearly impossible in the reported woman. The communication underlines the problem and gives diagnostic criteria.     

Genetics providers and the family covenant: connecting individuals with their families

As genetic testing becomes more commonplace, medicine will likely face both family and individual demands for access to, and control of, test result information. Past research has emphasized confidentiality concerns of the individual and contrasted these claims with the "need to know" by others to avoid harm. These confidentiality concerns, based on individual self-interest, are challenged by a singularly important aspect of genetic testing-familial responsibility. As patients are often motivated to obtain genetic testing by an array of "other-directed" considerations toward their own family (such as love, fiduciary responsibility, gratitude, etc.), an accounting of these concerns is warranted. Understanding the relevance of family relationships and obligations facilitates a fuller informed consent for genetic testing. Genetic counselors and geneticists engaging in genetic counseling can account for the concerns of both individuals and their families using the family covenant-a helpful, innovative model to address proactively boundaries of privacy and information sharing within the family. This model focuses on two areas of discussion: (1) the demarcation of the boundaries of confidentiality; and (2) the definition of "family." The family covenant helps genetics providers consider what information "should" be confidential, and with respect to whom.