家系

Methods Peripheral blood samples were collected from the members in a family with autosomal dominant congenital sutural cataract.

目的 对我国一常染色体显性先天性缝合状白内障家系进行致病基因的定位。

The gene responsible for congenital sutural cataract in a Chinese pedigree is located at chromosome 3q21.1-q26.2 within a 38.6 cM region.

先天性缝合状白内障家系的致病基因位于3号染色体3q21.1-q26.2约38.6 cM区域内。

In the previous study,we identified a novel point mutation of HOXD13 in a Chinese family with syndactyly typeⅤ.

前期工作中，本课题组在一个中国汉族V型并指家系中首次鉴定出HOXD13 p.Q317R点突变，主要畸形为第4、5掌骨融合。

LIU Chiping（ChangZhou Public Security Bureau Jiangsu,Changzhou,China）: The research of dermatoglyphic in a family with syndactyly

刘持平（常州市公安局，江苏常州，中国）：并指症家系指纹的研究

Generally speaking, most causes the blood disease which the skin hemorrhage, the menstruation increase, through inspections and so on routine blood test, marrow may be clear about the diagnosis basically, but to minority difficult case, then must through the special examination method, like the chromosome inspection, the gene order analysis, the blood platelet accumulation function determination be able to diagnose (my branch to apply the above method to diagnose rare May-Hegglin successively recently exceptionally with heredity telangiectasis sickness pedigree each example).

一般而言，多数导致皮肤出血、月经增多的血液疾病，通过血常规、骨髓等检查可基本明确诊断，但对少数疑难病例，则需通过特殊的检测方法，如染色体检查、基因序列分析、血小板聚集功能测定才能确诊（最近我科应用上述方法先后诊断了罕见的May－Hegglin异常和遗传性毛细血管扩张症家系各一例）。

Triploidy was obsered in four out of the six families.

在6个家系中有4个表现出了三倍性水平。

This method do not have limitation to then umber of markers and the size of pedigrees.

且其不受遗传标记数目与家系大小的限制。

The wood anatomical structure and fiber conformation of E.

对8个尾巨桉家系木材的解剖结构及纤维形态学参数进行了研究。

Since FAP was first known 120 years ago, knowledge about FAP as well as clinical diagnosis and treatment of the condition has been evolving gradually, from knowing it as multiple polyposis in early years to the establishment of sized familial registration centers in American and European countries today;from permanent colostomy in the past to widespread use of up-date pouches; and from finding association of FAP with apenteric lesions to the study of APC genotype-phenotype at molecular level.

文献报道FAP已有120多年，早期认为是多发性结肠息肉病到目前建立的规模性家系登记中心；从过去采用永久性的回肠造口治疗方式到当今保留肛门回肠贮袋与肛管吻合的术式；从发现FAP肠外病变到在分子水平开展APC基因型-表现型之间的研究，FAP的临床诊治水平在不断提高。

Objective To detect the mutation of FOXL2 gene in a Chinese pedigree affected by autosomal dominant blepharophimosis-ptosis-epicanthus-inversus syndrome.

目的 确定一个常染色体显性遗传的睑裂狭小综合征家系的致病基因及其突变位点和类型。

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。