Reyniers E, Van Bockstaele D R, De Boulle K, Kooy R F, Bakker C E, Oostra B A, Willems P J
Department of Medical Genetics, University of Antwerp, Belgium.
Hum Genet. 1996 Jan;97(1):49-50. doi: 10.1007/BF00218832.
A slight increase in mean corpuscular hemoglobin (MCH) has been reported in erythrocytes from human fragile X patients. As it is difficult to perform case-controlled studies in patients with fragile X syndrome, we studied MCH in erythrocytes from transgenic mice with an Fmr1 knockout. None of the knockout mice showed increased MCH levels when compared with normal littermates. We conclude that it is unlikely that the FMR1 gene product has an effect on MCH.
据报道，人类脆性X综合征患者的红细胞平均血红蛋白含量（MCH）略有增加。由于对脆性X综合征患者进行病例对照研究很困难，我们研究了Fmr1基因敲除的转基因小鼠红细胞中的MCH。与正常同窝小鼠相比，没有一只基因敲除小鼠的MCH水平升高。我们得出结论，FMR1基因产物不太可能对MCH产生影响。
