Hodge S E, Van Dyke D C, Goldman A S, Heide F, Hill R, Zmijewski C M
Department of Biomathematics, UCLA School of Medicine.
J Med Genet. 1988 Oct;25(10):698-702. doi: 10.1136/jmg.25.10.698.
During investigation of HLA types among children exposed to diphenylhydantoin (DPH) in utero, we found no evidence of a distortion in haplotype sharing among affected sib pairs. Unexpectedly, however, we found a marked increase in the proportion of all sib pairs (not just affected ones) sharing maternal haplotypes. Among 14 two child families, 12 shared the maternal haplotype (expected would be seven); among families with more than two children the distortion was also pronounced. This finding, if verified in future studies, could indicate that something in the mothers, whether DPH use during pregnancy, or some genetic factor associated with seizures, or some effect of the seizures themselves, may be leading to non-random segregation of HLA haplotypes in their offspring.
在对子宫内接触苯妥英(DPH)的儿童进行HLA类型调查期间,我们没有发现受影响同胞对之间单倍型共享存在扭曲的证据。然而,出乎意料的是,我们发现所有同胞对(不仅仅是受影响的同胞对)共享母系单倍型的比例显著增加。在14个有两个孩子的家庭中,有12个共享母系单倍型(预期为7个);在有两个以上孩子的家庭中,这种扭曲也很明显。如果这一发现能在未来的研究中得到证实,可能表明母亲体内的某些因素,无论是孕期使用DPH,还是与癫痫相关的某些遗传因素,抑或是癫痫本身的某些影响,可能导致其后代中HLA单倍型的非随机分离。