fragile x mental retardation 中文意思是什麼

fragile x mental retardation 解釋
脆性x智力低下
  • 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 ＝...
  • mental : adj 1 內心的；精神的，思想的；心理的 （opp corporal）。2 智慧的，智[腦]力的。3 悶在心裏的，暗自思...
  • retardation : n. 遲延，推遲，遲滯；阻礙；遲延程度，妨礙量；【物理學】減速度，妨礙物；【心理學】發育遲緩；遲鈍。
  1. Fxs is mainly caused by a kind of dynamic mutation, the expansion of a cgg repeat located in the 5 ' - untranslated region ( 5 ' - utr ) of the fmr1 ( fragile x mental retardation ) gene

    該綜合癥由患者細胞中可見xq27 . 3的脆性位點fraxa而得名。絕大多數脆性x綜合征患者的發病是由於fmr1基因5端非翻譯區的三核苷酸cgg重復的不穩定擴增所致。
  2. 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 。
  3. Fxs is characterized by x - linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye - gaze avoidance etc. fxs is associated with a fragile site, designated fraxa ( fragile site, x chromosome, a site ), at xq27. 3 near the end of the long arm

    其主要臨床特徵為智力低下、特殊的外貌特徵（包括長臉、大耳廓、下頜突出、巨頭、齶弓高、大睪丸等） 、行為及認知障礙、多動、注意力難集中以及孤獨、自閉等癥狀。
  4. 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。
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