fragile x syndrome 中文意思是什麼

fragile x syndrome 解釋
x染色體易裂癥
  • fragile : adj. 1. 脆的，易碎的。2. 脆弱的，虛弱的。adv. -ly ,-ness n. ＝fragility.
  • x : X2＝ （羅馬數字）10 XX ＝ 20 IX ＝ 9 XV ＝ 15 XL ＝ 40 LX ＝ 60 XC ＝ 90 DXL ＝ 540 MX ＝ 1010 ＝...
  • syndrome : n. 1. 【醫學】綜合癥，癥候群。2. （某一事物的）全部特徵；特徵群；（具有某種共同性的不同事物的）集合。
  1. Fragile x syndrome ( fxs ) is the most common form of inherited mental retardation after down syndrome. it affects approximately 1 in 4000 males and 1 in 8000 females in the general population

    脆性x綜合征（ fragilexsyndrome ， fxs ）是導致遺傳性智力低下的主要原因之一，發病率僅次於先天愚型，在男性中的發病率約為1 / 4000 ，在女性中發病率約為1 / 8000 。
  2. The absence of the fmr1 gene product, fragile x mental retardation protein ( fmrp ), is believed to be responsible for the typical physical and mental characteristics of the fragile x syndrome. alleles with between 43 and 200 cgg repeats are called permutation. they are generally unmethylated with normal transcript and protein level, but are extremely unstable during transmission to next generation

    帶有前突變（ n = 43 200 ）的個體其fmr1基因通常不會甲基化，可以正常轉錄和翻譯產生fmrp ，故沒有臨床表型出現，但是，在向下一代傳遞的過程中卻是非常不穩定的，會從前突變擴增成為全突變。
  3. The screnning and prenatal gene dignosis for fragile x syndrome using pfu dna

    綜合征的篩查和產前基因診斷
  4. To detect the patients and carriers of the fragile x syndrome, various analytic methods could be used. one is cytogenetic diagnosis to observe the expression of the fragile site fraxa located at xq27. 3

    對脆x綜合征的診斷，可以通過細胞遺傳學方法觀察分析x染色體相應脆性位點的表達情況，或是通過southern印跡雜交的方法直接分析cgg重復的擴增突變。
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