linkageanalysis相关论文
Purpose Molecular basis for cornea guttata and anterior polar cataract remains idiopathic in most cases.Our aim was to i......
Systematic dissecting different loci controlling seed coat colors by combining association and linka
Seed coat color is an important agronomic trait in soybean for morphology marker,biochemical function,and evolution.Alth......
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Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impa
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Ser217Cys mutation in the Ig Ⅱ domain of FGFR3 in a Chinese family with autosomal dominant achondrop
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A novel splicing mutation of TIMM8A causes X-linked congenital sensorineural deafness and dystonia s
The deafness-dystonia syndrome (DDS) is also known as Mohr-Tranebjaerg syndrome (MTS, MIM 304700). It is a rare X-linked......
目的 研究一个常染色体显性牙本质发育不全家系发病的遗传基础.方法 通过对一个DSPP家系临床检查和家族史调查,连锁分析和DSPP基因......
The genetic load for hereditary hearing impairment in Chinese population and its clinical implicatio
Objective To understand the genetic load in the Chinese population for improvement in diagnosis, prevention and rehabili......
目的 通过连锁定位分析,探讨一个中国原发性高度近视家系的致病基因与已报道高度近视相关连锁位点的关系.方法 选择一个连续3代发......
目的血友病A(HA)是FⅧ基因缺陷导致的X连锁隐性遗传性疾病。本研究尝试简单、快速并易于推广的基因诊断方法学,完善HA携带者检测和......
目的预激综合征为常染色体显性遗传性疾病.但其致病基因尚未定位、克隆.本实验摘要目的是探寻预激综合征的基因位点.方法应用基因......
目的 用连锁分析法对1个中国人显性视网膜色素变性家系进行已知位点的筛查,寻找其致病基因.方法 随机选取已知致病基因上下约5cM(J......
应用1头德国大约克公猪及3头二花脸母猪通过回交法(父女交配)建立了参考家系,采集了154头个体的血样,对12号染色体 微卫星位点(SW957、SW1553、SW1350、SW874)检测了每......