家系

The probands of microtia pedigrees were showed normal karyotype. Exclusion of vrk1 gene in the mutation of microtia pedigrees.

先天性小耳畸形家系核型正常，初步排除了vrk1基因在先天性小耳畸形发病中的作用。

Object of Study and Methods We obtained a Chinese pedigree with bilateral congenital microtia of concha type in 56 members of 5 generations family,we analyzed their clinical and hereditary features,epidemiology database and blood sample were collected for further study as well.

结果：该患者家系内共有成员56人，无近亲婚配情况，共有5代发病，累及患者20名，均为先天性双侧耳甲腔型小耳畸形患者，未伴有Treacher-Collins综合征及Millers综合征的相关表现，未发现心血管系统，泌尿系统以及四肢等发育畸形。

OBJECTIVE: To explore the characteristics of cataract in 26 patients with myotonic dystrophy of 3 pedigrees from Shanghai Songjiang area.

目的：分析上海松江地区强直性肌营养不良3个家系26例患者与白内障发病的特征。

Objective: To investigate the clinical manifestations and to make genetic analysis in a pedigree with myotonic dystrophy disease.

目的：探讨浙江台州地区一个强直性肌营养不良(myotonic dystrophy， DM)汉族家系的临床表现和分子遗传学基础。

Family and twin studies indicate that autism is one of the most strongly genetic neuropsychiatric disorders.

近年来，孤独症双生子及家系研究结果证实遗传因素在其发病中起着重要的作用。

FFA showed a great deal of blockage of dye and transmission defects in the paracentral and peripheral retina.

家系中其它成员均无夜盲史，眼底检查未见异常，D-15色彩排列试验结果正常。

To verify pathopoiesis of PRKAG2 with a novel missense mutation G100S responsible for Chinese PRKAG2 cardiac syndrome and promote pathogenic investigation of the PRKAG2 gene,we study the functional consequences of the mutation in the level of the cell and molecule by overexpressing mutants of PRKAG2 in CCL13 cells.

为了验证PRKAG2 G100S新突变在中国人PRKAG2心脏综合征家系中的致病作用，深入认识PRKAG2 G100S错义突变引起的功能变化，推动PRKAG2基因的致病机制研究，我们通过在CCL13细胞中过表达突变基因，从细胞、分子水平研究了PRKAG2 G100S突变的生物学功能。

The Cys788Arg mutation may be the main cause of piebaldism in this family.

Cys 788 Arg突变可能为此家系斑驳病的主要原因。

Results G 2528A substitution transition in the K/T gene was found in the pmband of the family with piebaldism.

结果家系中先证者存在K／T基因第2528位G→A，使密码子AGT〉AAT，导致A850N.100名健康对照组不存在此突变。

At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic. X-ALD is often misdiagnosed as attention-deficit/hyperactivity disorder in boys and as multiple sclerosis in men and women, and is not an uncommon cause of Addison disease;(2) the incidence of X-ALD, estimated to be 1:17 000 in all ethnic groups, approximates that of phenylketonuria;(3) noninvasive and presymptomatic diagnosis and prenatal diagnosis are available; family screening and genetic counseling are key to disease prevention; and (4) new therapies, applied early, show promise.

至少1半的X-ALD为成年病人，表现较轻，而作为携带者的女性也可发病。X-ALD在男孩常误诊为注意缺陷/多动综合征，男女可误诊为多发性硬化，并且也是Addison病的病因；(2)据估计X-ALD发病率为1：17 000，类似于苯丙酮尿症；(3)可进行无创性、症状前诊断和产前诊断；家系筛查和遗传咨询是疾病预防的关键；(4)早期采用新的治疗方法非常具有前景。

On the other hand, the more important thing is because the urban housing is a kind of heterogeneity products.

另一方面，更重要的是由于城市住房是一种异质性产品。

Climate histogram is the fall that collects place measure calm value, cent serves as cross axle for a few equal interval, the area that the frequency that the value appears according to place is accumulated and becomes will be determined inside each interval, discharge the graph that rise with post, also be called histogram.

气候直方图是将所收集的降水量测定值，分为几个相等的区间作为横轴，并将各区间内所测定值依所出现的次数累积而成的面积，用柱子排起来的图形，也叫做柱状图。