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半合子

半合子(hemizygote)：在二倍体生物中，某个基因在一对同源染色体上不成对出现，只存在于其中一条同源染色体上，另一条上没有与其对应的等位基因。

例如:一位中國女病患患有低分子量蛋白尿症(low-molecular-weight proteinuria)和透納氏症，起因於半合子CLCN5（英语：CLCN5）基因的突變。[1]
亦可指一整條染色體不成對，例如：雄性的XY同源染色体。

参考文献

[编辑]
  1. ^ Ye, Y., Wang, J., Quan, X.; et al. Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).. 2013-02-25. 
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半合子
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