由于Schinzel - Giedion早已被认为是由新生显性突变引起的,因此缩小候选基因的列表就与隐性遗传疾病略有不同。
Because Schinzel-Giedion was already thought to be caused by a DE novo, dominant mutation, narrowing down the list of candidate genes was slightly different than for inherited, recessive disorders.
研究发现,各型基因突变均可引起新生儿高胆红素血症、急性溶血性贫血等,也与病毒性肝炎、白血病、淋巴瘤等疾病的发生有一定关系。
Our Studies suggest that all the gene mutation may le AD to jaundice of the newborn, acute hemolytic anaemia, and have some relation to viral hepatitis, leukaemia, lymphoma.
建议将此突变位点检测运用于遗传咨询、产前诊断、新生儿和不明原因感音神经性聋患者的基因筛查中。
It is suggested to utilize this detection for genetic counseling, prenatal diagnosis, and the genetic screening of neonates and the sensorineural hearing loss with unknown reason.
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