Cole C G, Walker A, Coyne A, Johnson L, Hart K A, Hodgson S, Sheridan R, Bobrow M
Paediatric Research Unit, United Medical School of Guy's Hospital, London.
Lancet. 1988 Feb 6;1(8580):262-6. doi: 10.1016/s0140-6736(88)90349-2.
DNA studies were undertaken following 53 requests from pregnant women at risk for Duchenne and Becker muscular dystrophy, including 32 in whom there was only 1 affected individual in the family (sporadic cases). The DNA restriction fragment length polymorphisms were informative in 51 of the 53 cases. In 10 of 25 pregnancies with male fetuses the risk to the fetus was reduced to 5% or less. Referral of possible carriers before onset of pregnancy is strongly advisable on both medical and economic grounds. The banking of DNA from affected individuals for future use in the estimation of risks to their relatives should be encouraged.
应53名患杜兴氏和贝克氏肌肉营养不良风险的孕妇的要求进行了DNA研究，其中包括32名家族中仅有1名患病个体的情况（散发病例）。53例中有51例的DNA限制性片段长度多态性具有参考价值。在25例怀有男性胎儿的妊娠中，有10例胎儿患病风险降至5%或更低。出于医学和经济原因，强烈建议在怀孕前对可能的携带者进行转诊。应鼓励收集患病个体的DNA样本以供日后评估其亲属的患病风险。
