Panel of Microsatellite Markers for Whole-Genome Scans and Radiation Hybrid Mapping and a Mouse Family Tree

To facilitate whole-genome scan experiments, we selected a panel of 128 microsatellite markers on the basis of spacing and polymorphism in the strains DBA/2, BALB/c, AKR, C57BL/6, C57BL/10, A/J, C3H, 129/J, SJL/J, JF1, and PWB. Many of the primer pairs were redesigned for better performance. The last four strains were not characterized previously using these markers. JF1 and PWB are particularly interesting for intersubspecific crosses offering high polymorphism. We provide allele size data for the markers on these strains and add them to the emerging radiation hybrid framework map, which is not continuous except for chromosome 17 and 13. Information on the interrelationships of strains is useful both because of the importance of polymorphism in designing crosses and the background in assessing phenotypes. Microsatellites offer a widely dispersed, selectively neutral set of characters that lends itself conceptually to parsimony methods of analysis. The microsatellite allele size data were recoded as binary discrete characters in such a way that adjacent sizes differ by one step. Trees were generated using a Wagner parsimony method. As expected, the non-Mus domesticus strains, PWB (musculus) and JF1 (molossinus), are excluded from the domesticus strains. Among the domesticus strains, C57BL/6 and C57BL/10 (derived from the same founding pair) form a strongly supported group, as do C3H, A/J, and BALB/c (derived from the Bagg albino stock). No unique branching order for SJL/J, AKR, and DBA/2 is strongly supported, which may reflect a complicated history. Strain 129/J is clearly placed as the most deeply diverged of the domesticus strains represented.     

自愿戒毒海洛因依赖者家属的家庭功能研究

目的:了解海洛因依赖者家庭成员的家庭功能状况.方法:采用家庭功能量表(FAD)对79例海洛因依赖者家属(研究组)以及60例正常志愿者(对照组)进行调查,并比较结果.结果:研究组在角色和情感反应等方面的评分显著高于对照组(29.70+2.84 vs 27.20±1.95,P＜0.05;16.53±1.91 vs 15.75±1.36,P＜0.05);依赖者母亲在角色(16.91±2.12 vs 15.65±1.67,P＜0.05)和总的功能方面(30.64±3.04 vs 29.21±1.63,P＜0.05)的评分,依赖者配偶在情感介入方面(19.12±1.81 vs 17.58±1.60,P＜0.05)的评分均显著高于相应的对照者.结论:海洛因依赖者家庭成员的家庭功能不良.     

A Family with Heritable Electrocardiographic QT-prolongation

A report is presented concerning a family with heritable electrocardiographic QT-prolongation attacks of syncope and possible sudden death. In 23 family members investigated, nine living cases were found to have the anomaly. Of these nine patients at least two had had syncopes in early childhood. Hearing loss was found in three of the nine patients, but in one of them this could have been due to noise trauma and in another hearing loss was unilateral. The inheritance follows an autosomal dominant pattern. As far as we know this is the first report of this disease from The Netherlands.     

家庭功能的研究现状

目的探讨家庭功能的研究现状。方法在中国期刊网,利用文献检索法查阅了近年32篇研究论文,进行归纳分析,从不同侧面探讨家庭功能等问题。结果系统论述了家庭功能的理论、家庭功能的测量、影响家庭功能的因素等。结论每种家庭功能理论及测量都有其优点和缺点,影响家庭功能的因素是多方面的。     

A New Family of Styrene/Diene Rubbers

The insertion of single styrene units into polyisoprene is demonstrated using borohydrido rare earth/dialkylmagnesium systems. This yields a new family of styrene/diene copolymers (SBR rubbers). The resulting poly[(1,4‐trans‐isoprene)‐co‐styrene] exhibits quite narrow molecular weight distributions, up to 30% inserted styrene, and a 96–98% 1,4‐trans‐microstructure. The presence of a bulky and electron‐rich ligand in the coordination sphere of the metal leads to an increase of the amount of styrene inserted and narrower chemical composition and molecular weight distributions. The presence of significant quantities of styrene in the medium does not alter the selectivity of the reaction, in contrast with cis‐specific polymerizations.

     

A Korean Family with the Muenke Syndrome

The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient''s mother, two of the mother''s sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.     

A Family with Complement Factor I Deficiency

A family with inherited factor I deficiency is described. The proband was a 19-year-old Caucasian female with one episode of meningococcal meningitis and one episode of suspected septicaemia of unknown cause. Two obligate and two probable heterozyotes with factor I levels below the lower limit of the reference range were identified. None of these exhibited increased susceptibility to infectious diseases. The inheritance was autosomal codominant. In addition, molecular heterogeneity of factor H in plasma from the proband but not from any other family members was demonstrated by crossed Immunoelectrophoresis. The migration of factor H component of fast electrophoretic mobility was retarded by antibodies to C3eand C3d. suggesting the presence of a fluid-phase complex between factor H and excess C3h generated by the uncontrolled activity of the amplification loop.     

A Family of Cross-Reacting Proteins Secreted by Mycobacterium tuberculosis

Cross-reactions between five proteins actively secreted by Mycobacterium tuberculosis were studied by crossed immunoelectrophoresis, SDS-PAGE with immunoblotting, and ELISA using polyclonal rabbit antisera and mouse monoclonal antibodies to the purified proteins. The monoclonal antibody HBT4 was demonstrated to react with the MPT51 protein. The 85A, 85B and 85C constituents of the M. tuberculosis and Mycobacterium bovis BCG antigen 85 complex cross-react extensively, each of the components containing component-specific as well as cross-reacting epitopes. These components also cross-reacted with MPT51 and MPT64. N-terminal sequence studies revealed striking homology at the amino acid level between 85A, 85B, 85C and MPT51. MPT64 showed less homology. In addition, striking homology was demonstrated between two different stretches within the 85B sequence and indicated between three stretches within the MPT64 molecule. Thus, a family of at least four secreted proteins with common structural features has been demonstrated in mycobacteria. MPT64 may also belong to this family.     

The Genetic Variability of Thalassaemia. A Family Study

Two step-brothers, homozygotes for β-thalassaemia, have been studied. One of them showed the characteristics of Cooley's anaemia, whereas the other was almost symptomless. The existence of two different β-thalassaemic genes is discussed in relation to the haematological and clinical findings.     

系统家庭治疗技术的临床运用(一)

目的：探讨系统家庭治疗技术的临床运用。方法：运用规范的系统家庭治疗技术进行访谈、干预１３７例家庭，随访９０例。用彩色摄像和高灵敏度录音系统记录每次治疗访谈和随访访谈的全部过程，用相应调查表进行反馈。结果：除绘画练习外，绝大多数常用技术均能较好地应用于中国家庭，但受讨论问题与非问题的比例、治疗师是否中立、系统逻辑、关系现实，对治疗性提出内容理解的程度等多因素的影响。结论：系统家庭治疗常用技术适用于中     

先天性特发性眼球震颤家系中GPR143基因的研究

目的验证我们所收集的家系在GPR143基因的已报道突变位点中是否有所相同。方法对本家系中的15个个体进行GPR143两个基因的外显子编码区进行基因突变检测,PCR扩增已以及纯化后进行GPR143基因的编码区测序。比对已报道的突变位点与本家系的关系以及直接测序分析寻找突变位点。结果通过验证发现我们的家系与目前所报道过的GPR143基因突变位点并无重复。结论通过验证发现我们的家系与目前所报道过的GPR143基因突变位点并无重复。排除了已报道过的突变位点,可以推测我们的家系中也许存在新的突变位点或是新的致病基因。     

双相情感性精神障碍家庭教育的前瞻性对照研究

目的：探讨对双相情感性精神障碍患者亲属进行家庭教育的可行性、有效性。方法：将双相情感性精神障碍病人的亲属随机分为家庭教育组和对照组。教育组实施药物治疗基础上的家庭教育,对照组单以药物治疗,为期３年。结果：经生存率分析,７５例教育组病人３年累计缓解率为６０．０％,７３例对照组为３４．５％,经Ｉｏｇ－ｒａｎｋ检验,二者差异有显著性（ｘ＾２＝１３．７９,Ｐ〈０．０１）。教育组患者的社会功能、服药依从性、