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XLMR的男性患病率为1.83‰,女性携带者频率为2.44‰,脆性X综合征占XLMR的40%左右,XLMR按人均智商100和其标准差15可分为轻、中、重、极重四级,通常分为轻、重两大类。已发现的特异性XLMR达70余种,按临床表现分为十大类。据估计X染色体上可导致MR的基因位点有19个之多,其中一些已经定位,脆性X综合征的遗传制图获得了新的进展,预计导致脆性X综合征的突变基因的克隆不久的将来就要实现。本文还就非特异性XLMR的遗传咨询提供了经验风险。
XLMR prevalence rate of 1.83 ‰ males, females frequency of 2.44 ‰, fragile X syndrome accounted for about XLMR 40%, XLMR per capita IQ 100 and its standard deviation of 15 can be divided into light, medium and heavy, extremely heavy Four, usually divided into light and heavy two categories. Has been found in more than 70 kinds of specific XLMR, according to clinical manifestations into ten categories. It is estimated that there are as many as 19 loci in MR on the X chromosome, some of which have been mapped and that new progress has been made in the genetic mapping of Fragile X syndrome. It is expected that the cloning of the mutant gene in Fragile X syndrome is expected in the near future Will be achieved. This article also offers empirical risks for genetic counseling of nonspecific XLMRs.