常染色体

目前有关中国马和驴品种遗传多样性的研究多数集中在线粒体DNA和常染色体DNA方面，对其Y染色体遗传多样性和起源进化的研究还比较缺乏。

Studies about the genetic diversity of Chinese domestic horses and donkeys were mainly concentrated on mitochondrial genome and autosome . Nevertheless , papers on genetic diversity and origins of Y chromosome in horse and donkey are limited .

MiHAs数量庞大，其编码基因分布于整个基因组，包括常染色体、Y染色体、线粒体DNA，现已发现的人类MiHAs有十几种。

The numbers of MiHAs are huge and their coding genes are in the hole genome , including autosome , Y chromosome and mitochondrial gene .

人的x和y染色体跟常染色体有不同的活动。

Human X and Y chromosomes behave differently from the autosomes .

常染色体显性遗传视神经萎缩的线粒体DNA含量减少

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy

x、y染色体行为落后于常染色体，配对始于早粗线期，完成于中粗线期。

The x-y pairing begins in early pachytene stage .

在家族中，致病基因可以常染色体显性、常染色体隐性或X连锁遗传的方式传递。

In families , The inheritance patterns are autosomal dominant , autosomal recessive or X-linked recessive .

6例家族性PD患者中，发现1例有第5外显子缺失，其遗传模式呈常染色体隐性遗传，起病年龄60岁；

In the 6 familial PD patients , 1 had exon 5 deletion .

人群中，大部分遗传性白内障是外显率较高的常染色体显性遗传，但也有X连锁和常染色体隐性遗传存在。

It is usually inherited as an autosomal dominant trait , although autosomal recessive and X-linked inheritance are seen less commonly .

结果是牦牛常染色体均为近端点着丝粒染色体，X、Y染色体为亚中部着丝粒染色体。

The result showed that all autosomes which have short arm were acrocentric , the X and Y chromosomes were submetacentric .

结论染色体G带核型分析发现，可以明确鉴别犬第1～21号常染色体和性染色体，但很难可靠地鉴别其余的17对常染色体。

Conclusion Canine autosomes 1 to 21 and sex chromosomes can be easily identified , but is not the rest 17 pairs .

Y染色体轴在减数分裂前期中有明显特征，易于与常染色体的SC区别。

The X and Y chromosome axes have a clear morphological distinction from the autosomal SC.

分离分析结果显示，U×U多发家庭组和U×A家庭组可以接受常染色体隐性遗传的假设；

The results of segregation analysis indicate that the genetic pattern of UU multiplex families and UA group is autosomal recessive .

目的：对一个常染色体显性遗传扩张型心肌病（familialdilatedcardiomyopathy，FDCM）家系进行基因定位。

Objective To localize the gene of autosomal dominant familial dilated cardiomyopathy with conduction defect .

MI期染色体畸变类型主要有：①常染色体单价体；

The chromosomes abnormalities in MI stage were showed as follows : ① univalents of autosomes ;

在雌性个体中，遗传功能失活的晚复制X染色体淡染色，可以和常染色体以及另一条X染色体鉴别。

In female individuals a late replicating X chromosome which genetically was inactive slightly stained and could be discriminated from the autosomes and other X chromosome .

结论原发性高血压是由DNA损伤引起的人类表型缺陷，该病症符合常染色体显性遗传，具延迟外显性。

Conclusion : The essential hypertension is the human phenotype blemish caused by injured DNA . It is compatible with an autosomal dominant inheritance and its performance is delayed .

常染色体STR遗传标记在同胞鉴定中的应用

Application of autosomal STR genetic markers in siblings identification

晶体蛋白βA1基因缺失突变导致常染色体显性遗传核性先天性白内障

Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the β A1-crystallin gene

晶状体蛋白βB1基因错义突变引起常染色体显性遗传性白内障

Missense mutation in the β B1-crystallin gene caused autosomal dominant congenital cataract in China

一例罕见的X&常染色体平衡易位[46，X，t（Xq~+；15q~-）]伴发自然流产

A Rare Case of Balanced X-Autosome Translation [ 46 , X , t ( Xq ~ + ; 15q ~ - ) ] Associated with Spontaneous Abortion

常染色体STR突变基因座父权指数计算

Paternity Index Calculation in Mutation Autosomal STR Locus

结节性硬化综合症（TuberousSclerosisComplex，TSC），是一种以全身多器官错构瘤病变为特征的常染色体显性遗传性疾病。

Tuberous sclerosis complex ( TSC ) is an autosomal dominant disorder characterized by hamartomas in the affected organs .

研究分析了前12对常染色体和性染色体的G带带型，并绘制了包含165条带（其中75条阳性带）的G-带模式图。

In addition , one haploid karyotype for the first 12 pairs of autosomes and sex chromosomes corresponded to 165 ( 75 positive ) G-bands showed by the ideogram .

PPARγ激动剂治疗常染色体显性多囊肾病的实验研究

Experimental Research on the Treatment of Autosomal Dominant Polycystic Kidney Disease with PPAR γ Agonists

先天性垂体性侏儒症的遗传方式有常染色体显性遗传，常染色体隐性遗传和X染色体遗传，其中常染色体隐性遗传是最常见的一种，目前已发现该疾病的致病基因有17个。

Inherited Pituitary Dwarfism can be inherited in autosomal dominant , autosomal recessive , or X-linked patterns . However , autosomal recessive is the most common form of it .

检测孕妇血浆中游离胎儿DNA常染色体STR基因座，可用于常染色体遗传疾病的产前基因诊断。

Analysis of cell-free fetal DNA in maternal plasma at autosomal STR loci could be used in prenatal diagnosis of autosomal disorders . 3 .

目的：探讨常染色体STR基因座检测在二联体亲子鉴定中的应用价值。

Aim : To study the application of PCR-STR DNA typing in forensic diad paternity testing .

目的研究我国一个4代常染色体显性遗传视网膜色素变性（RP）家系患者的致病基因突变位点及临床表型特征。

Objective To identify mutations in a four-generation Chinese family with retinitis pigmentosa and to investigate its clinical phenotype .

遗传性皮肤病和非综合征型神经性耳聋（nonsyndromichearingimpairment，NSHI）是两大类比较重要的常染色体显性遗传病。

Inherited skin disease and nonsyndromic hearing impairment are two important autosomal dominant diseases .

方法选择常染色体上365个短串联重复序列标记，应用DNApooling方法对一母系遗传性聋家系进行全基因组扫描。

Methods Whole genome-wide scanning was performed to analyze the 365 short tandem repeats in a deaf pedigree with maternal inheritance using DNA pooling strategy .