DOES UNEQUAL CROSSING OVER CONTRIBUTE TO THE MUTATION-RATE IN DUCHENNE MUSCULAR-DYSTROPHY

DOES UNEQUAL CROSSING OVER CONTRIBUTE TO THE MUTATION-RATE IN DUCHENNE MUSCULAR-DYSTROPHY
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DOI:
10.1002/ajmg.1320120407
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发表时间:
1982-01-01
期刊:
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子:
--
通讯作者:
PEMBREY, ME
PEMBREY, ME
中科院分区:
其他
文献类型:
--
作者:
WINTER, RM;PEMBREY, ME

文献摘要

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为了解释杜氏肌营养不良症(DMD)的高突变率,以及精子和卵子中明显相等的新突变发生率,这与其他X连锁疾病相比是不寻常的,假设DMD中很大比例的新突变是由女性减数分裂时的不平等杂交引起的。如果这是真的,那么对研究DMD的分子基础的策略有重要的影响。
In order to explain the high mutation rate in Duchenne muscular dystrophy (DMD), together with the apparent equal incidence of new mutations in sperms and ova, which is unusual when compared with other X‐linked conditions, it is postulated that a significant proportion of new mutations in DMD are caused by unequal crossing over in females at meiosis. If this is true, then there are important consequences for the strategy of research into the molecular basis of DMD.