家系

RESULTS: This family exhibits a high penetrance and expressivity of visual impairment.

结果 这个家系有视力损伤的高外显率和高表现度，其成员平均发病年龄在13.9岁，这个家系的86%男性和29%女性母系亲戚有视力损害，严重程度从轻度损害到完全失明。mtDNA分子分析确证了属于亚洲单体群的同质ND4 G11778A突变和其他35种变异。

Results In this pedigree,there are 13 people showed typical ALS symptoms,8 died of this disease,but most of them present varing period of fasciculation before onset.

结果该家系有6代、237人，其中13人患病，8人死于ALS，具典型ALS症状，但起病前有较长一段时间肌肉纤颤期。PCR-SSCP法检测SOD1基因未发现突变，为非SOD1基因突变的ALS家系。

Methods PCR-restrictive fragment length polymorphism was used to examine the SNP of rs1473109 of HIRA in 216 Han core family trios of schizophrenia.Data was analyzed using family based linkage disequilibrium.

在216个汉族精神分裂症核心家系中，以PCR和限制性片段长度多态方法对HIRA基因rs1473109 SNP进行检测，应用基于家系的连锁不平衡方法分析基因型数据。

In one family the diagnosis could not be made because the parents carried homozygote. The rate of diagnosis that could be made was 69%.

可诊断率为100％和50％的家系各6个，1个家系因双亲带型为纯合型而未能诊断，可诊断率为69%。

Ten strains of adult specific pathogen free chickens are inoculated with Laryngotracheitis virulent virus,to in vestigate the clinical signs and the pathological changes by autopsy.Inoculate SPF embryonated eggs of the ten strains with virulent infections bronchitis virus and vaccine ND virus respectively.

用传染性喉气管炎强毒株感染10个家系150日龄BWELSPF鸡，观察比较临床症状和剖检所见病变；用传染性支气管炎强毒株和新城疫疫苗株分别接种这10个家系的鸡胚，收获胚液并测定其毒价。

Pot experiment with twenty-three open-pollinated Liriodendron chinense families from Liping of Guizhou at two nitrogen levels was conducted to study family differences of growth response to nitrogen supply.

选用来自贵州黎平马褂木优良种源的23个优树自由授粉家系，设置低氮素和高氮素2种水平的盆栽试验，以研究马褂木家系苗生长对氮素营养的遗传反应差异及所受遗传控制。

A pot experiment with twenty-three open-pollinated Liriodendron chinense families from Liping of Guizhou at two nitrogen levels was conducted to investigate family variation and inheritance of nitrogen absorption and utilization efficiency related to nitrogen supply.

选用来自贵州黎平马褂木优良种源的23个优树自由授粉家系，设置低N和高N2种N素水平的盆栽试验，以研究马褂木N素吸收和利用效率的家系遗传变异及N素水平的影响。

Results 1555 mutation in the mitochondrial DNA was reverified to be one of the major factors which cause maternally inherited nonsyndromic deafness and the cosegregation of 955-960 and 1555 was present in this family.

结果再次证明了1555突变是该家系成员致聋的分子生物学基础之一；并发现该家系27名母系成员的线粒体基因组中除1555突变外，还同时存在有955-960同质型突变，两突变共分离。

DM1 and DM2 gene were amplified by PCR,tested by agarose electrophoresis, then analyzed by genetic analyzer. Results: Myotonia and muscle weakness were the main manifestations associated with heart block (7/8) and cataract (6/7). Electromyologram showed myopathic abnormalities not only in patients but also in other members of the family (5/6). The CTG repeats in DM1 and CCTG repeats in DM2 were all in normal range.

结果：该家系患者除有肌强直、肌萎缩等表现外；心电图检查：心脏传导阻滞(7/8)；裂隙灯检查：白内障(6/7)；肌电图检查：患者组有强直电位发放(5/5)，无临床症状成员也存在肌源性损害(5/6)；但该家系无DM1位点n和DM2位点n的重复数增加。

Variable clinical features and incomplete penetrance were found in the affected members of AA family.

研究结果：1.AA家系临床上，AA家系中的患者以夜盲起病，发病年龄较晚，表现为进行性视力下降和周边视野缺损。

Objective To investigate the effects of interleukin-1 β converting enzyme gene on the biologic characteristics of ovarian cancer cells.

目的 探讨白细胞介素-1 β转换酶的表达，对卵巢癌细胞生物学特性的影响。

Campylobacter: This illness is the most commonly identified cause of diarrheal illness in the world.

弯曲：这种病是最常见的原因查明腹泻病，在世界上。