家系

Results 7 pedigrees of microtia were collected from September 2005 to March 2007. There were no abnormal cell genetics analysis and molecular genetics research of the probands.

结果：于2005年9月～2007年3月，收集先天性小耳畸形家系7个；对7个家系先证者的核型分析和vrk1基因突变检测均未发现异常。

Spinocerebellar ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders.

第一部分 SCA家系致病基因定位第一章一个新的SCA家系致病基因定位脊髓小脑型共济失调(spinocerebellar ataxias，SCA)是一种具有高度临床和遗传异质性的神经系统退行性疾病，多呈常染色体显性遗传。

Since the identification of the first gene responsible for spinocerebellar ataxia type 1 (SCA1) in 1993, an increasing number of genes and chromosomal loci have been characterized.

我们收集到一个来自中国湖南望城的常染色体显性遗传SCA家系，主要临床特点为晚发缓慢进展的小脑性共济失调，起病年龄在40-52岁，平均47.25±4.37岁，可伴有痉挛性斜颈，头部MRI表现为小脑萎缩，家系未观察到遗传早现现象。

To investigate the gene mutation of clinical and neuroelectrophysiological characteristics in Machado-Joseph disease. The gene mutation was detected in 45 patients diagnosed as spinocerebellar ataxia and 30 "healthy relatives". Brain stem evoked potentials, visual evoked potentials and motor conduction velocity and sensory conduction velocity were performed on MJD.

为了解Machado-Joseph病基因突变及临床的神经电生理特点，对16个诊断为遗传性小脑性共济失调家系的45例病人及30例家系的&正常&人作MJD基因突变分析，检出MJD基因的病人行肢体运动及感觉神经传导速度、脑干诱发电位，视觉诱发电位的检查。

Objective: To identify mutations in exon 16,18 of the gene CYLD1 in a Chinese family with multiple familial trichoepithelioma in Shandong Province.

目的：收集山东一多发性家族性毛发上皮瘤家系，通过直接测序法检测该家系圆柱瘤病肿瘤抑制基因(cylindromatosis tumor-suppressor gene，CYLD1)第16、18号外显子是否存在突变。

Effects of inbreeding on body weight and survival time post infection WSSV of juvenile shrimp were quantified in this study.

本试验在相似的环境条件下养殖了40个野生对虾产生的家系和3个兄妹交产生的家系，定量测定了平均体重（1.43～1.58）g1460尾中国对虾早期体重和感染白斑综合征病毒后存活时间的近交衰退系数。

With the prolongation of the time of Pb and Cd stress, the chlorophyll content of the clones and families were induced to first increase and later decrease, except that NEF14 and NEF12 were downtrend at all times. With the increasing of Pb and Cd concentration the chlorophyll content decreased fastly in the latter stress period. The downtrends of NE60 and NEF14 which were stress-resistence were small.

随胁迫时间的延长，杂交鹅掌楸无性系和家系(但NEF14和NEF12一直呈下降趋势)的叶绿素含量先升后降，随着Pb、Cd处理浓度增大，在胁迫后期叶绿素含量下降越明显，抗性较强的NE60无性系、NEF14家系降幅较小。

Using genealogy to study genoms of syndromes can eli...

利用家系进行证候的基因组研究，可排除大量干扰因素，对于复杂的寒证可有效、集中地筛选目标基因，提示寒证家系患者机体能量异常、代谢减慢有相应的分子生物学基础。

Patients were accompanied with TGBM in the familial IgAN, while only 11%(24/219) in the sporadic IgAN.(2) The clinical manifestations of 30 IgAN patients with TGBM were generalized as following: predominant in the affected female, persistent haematuria, the high incidence of familial history with renal disease, the less quantity of urinary protein and benign clinical courses.

1在家族性IgA肾病患者中，TGBM-IgAN患者所占比例为31.8%(21/66)，明显高于其在散发性IgA肾病中所占比例11%(24/219)；(2)30例TGBM-IgAN患者临床特点：女性为主(20/30)，合并肾脏病家族史比例高，均有血尿，尿蛋白量少，预后较好；(3)3个TGBM-IgAN家系中，2个家系与COL4A3/COL4A4的连锁分析提示与COL4A3/COL4A4基因连锁，LOD值为1.53(θ=0)。

The average values of most traits of clones are greater than that of half-sib families except for the content of chlorophyll and the concentration of CO2 between cells.

无性系测试林的总平均侧枝数、叶绿素a含量、叶绿素b含量、总叶绿素含量和细胞间隙CO2浓度等五个指标，低于半同胞家系测试林的总平均值，其它指标大都大于在半同胞家系间的总平均值。

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。