家系

ABSTRACT:Objective To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia.

目的 利用直接测序法对一中国汉族人X性连锁少汗性外胚叶发育不良家系进行基因诊断。

Methods Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing.

采用聚合酶链反应扩增该家系中两名临床诊断为X性连锁少汗性外胚叶发育不良的患者、患者父母以及100例健康对照者ED1基因的8个外显子，进行DNA直接测序。

A novel mutation in the donor splice site of intron 1 of FECH gene is first reported in a Chinese family with EPP; this mutation may lead to a deficiency of FECH gene and serve as a molecular basis of development of erythropoietic protoporphyria.

报道一FECH基因第1内含子供体剪接位点的新突变，该突变可能引发FECH基因缺陷，是EPP家系中患者发病的分子基础。

Objective Analysis of pathogenic gene linkage and hemopoietic characteristics in a kindred with sideroblastic anemia.

目的 分析铁粒幼细胞贫血家系的致病基因和研究患者骨髓造血特征。

A genetic epidemiologic case-control study including 407 pedigrees(249 cabes and 158 controls)was car-ried out to estimate the segregation ratio and the hereditability(h￣2)of esophageal cancer by using the methodof Li-Mantel-Gart and Falconer,respectively,and to compare the genetic epidemiologic features from theother cancers.

本文通过遗传流行病学病例对照研究，对淮安407个家系（249个先证病例，158个对照），应用Li－Mantel－Gart和Falconer方法分别进行了分离比、遗传度估算及比较流行病学研究。

Results Fourteen individuals from two pedigrees carried homoplasmic 1555G mutation. Seven sporadic patients and the five mothers did not have 1555G mutation.

结果 两个家系的14份样品为1555G点突变阳性，散发病例及部分亲属的12份样品全部为1555G点突变阴性。

Gene mapping of a hereditary hypotrichosis simplex family;2. Objective To collect pedigree of hereditary hypotrichosis simplex .

目的 收集一遗传性单纯少毛症家系，通过定位候选克隆技术，识别该病的致病基因，以阐明遗传性单纯少毛症的发病机制。

In nuclear style families, to study the genetic association and linkage relationship and to provide the genetic basis information for the further research. Methods: We investigated the genetic structure and relationship of 116 Keshan Disease patients and 65 local normal people in Shaanxi province with HLA-DRB1 locus, which is characterized by high polymorphism and inheritage stability, with polymerase chain reaction-sequence specific oligonuclotide probe.

本研究选用具有高度多态信息量及遗传稳定性的人类HLA-DRB1遗传位点，以陕西118名克山病人及当地65名正常对照人群作为研究对象，用聚合酶链反应—序列特异性寡核苷酸探针的方法对其遗传结构及其相互关系进行了分析研究，并在核心家系中采用基于单体型的相对风险及传递不平衡检验对其遗传指标进行了统计计算。

Of 14 matrilineal relatives, three suffered from hearing loss, three had epilepsy, and other did not have significant clinical abnormalities.

该家系共3代人，其中14名母系成员中有3名耳聋患者， 3名癫痫患者，而其他成员则无临床症状。

Objective To collect, protect and study on pedigrees of microtia.

目的：收集和利用先天性小耳畸形家系资源进行相关的遗传学研究。

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。