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- The proband of pedigree A with highexpression of fragile X chromosome(35/273) was detected to be a full mutation patient of fragile X syndrome by the molecular genetic test. A家系先证者脆性X染色体高表达（35/273），分子遗传学检查证实为脆性X综合征全突变患者；
- There is no expression of fragile X chromosome in the proband and his mother of pedigree B,which was futher confirmed as a non-fragile X pedigree by the molecular genetic test. B家系先证者及其母亲无脆性X染色体表达，分子遗传学检查证实为非脆性X综合征患者；
- To establish time-efficient and sensitive method for detection of the methylation of FMR1(fragile X mental retardation)and XIST(X chromosome inactivation)genes,genomic DNA was deaminated by sodium bisulfite. 建立一种快速、灵敏的检测脆性X智障基因(fragile X mental retardation;FMR1)、X染色体失活基因(Xchromosome inactivation;XIST)甲基化的方法.
- fragile X chromosome mental retardation syndrome 脆性X染色体智力障碍综合征
- fragile X chromosome 脆[性]X染色体
- fragile X chromosome syndrome 脆性X染色体综合征
- fragile X chromosome(fra X) 脆性X染色体
- In women, a faulty gene on one X chromosome is counteracted by a healthy copy. 对女性而言，那条正常X染色体上的基因完全可以替代另一条X染色体上的异常基因。
- One example is the triplet expansion repeat mutations which can cause fragile X syndrome or Huntington's disease. 第一个特性是这种遗传疾病是由得病的母亲传给儿子与女儿。
- Obejective To discuss the relationship between the congenital mental retard and the FMR-1(fragile X syndrome mental retardation genel). 目的探讨先天性智力低下与脆性X综合征智力低下基因1(Fragile X mentalretardation gene 1,FMR-1)关系。
- If we change the X chromosome to "Y" by bombarment method (or something like that). 如果我们用方法，将X染色体的其中一段打断，变成"Y";染色体。
- The cloned retinoschisis gene (RS1) maps to the distal short arm of the X chromosome (Xp22.2). 近年来的研究已将RS基因定位于Xp22.;2(X染色体短臂远端)。
- Objective To discuss the mechanism of intracellular cyclic adenosine monophosphate (cAMP) level depression in fragile X syndrome. 目的 探讨脆性X综合征细胞内环磷酸腺苷 (cAMP)降低的机制。
- Objective:To investgate the possibility of reactivating fragile X mental retardation-1 gene(FMR1) by cyclic adenosine monophosphate(cAMP). 目的探讨环磷酸腺苷(cAMP)对脆性X智力低下一号封闭基因(FMR1)再激活作用的可能性。
- DMD occurs when a gene on the X chromosome fails to make the essential muscle protein dystrophin. 这种疾病的病因是在X染色体上的一个基因不能表达抗肌肉萎缩蛋白。
- A noncoding gene named Xist produces an active RNA that coats the unneeded X chromosome. 称为Xist的非编码基因制造了活性RNA，将不必要的X染色体给覆盖起来。
- The neuroanatomical abnormalities common to both Down's syndrome and fragile X syndrome are in the hippocampus and cerebellum. 唐氏症和X染色体脆折症的神经解剖结构异常之处同是位于海马回和小脑。
- But many primates, including humans, hae a third photopigment, encoded by a second gene on the X chromosome. 但是多数灵长类包括人类有着三种感光色素，通过在X染色体中的第二种基因编码。
- Rather, we happened to find something on the X chromosome," Dr.Younkin explained. 相反的，我们碰巧在X染色体发现一些东西。
- Objective To study the influence of defection of Fragile X mental retardation-1 gene (FMR1) on cyclic adenosine monophosphate (cAMP) and to discuss its mechanism. 目的 探讨脆性X智力低下一号基因 (FMR1)表达缺失对环磷酸腺苷 (cAMP)的影响及其机制。
