Hutton E M, Thompson M W
Can Med Assoc J. 1976 Oct 23;115(8):749-52.
Assay of serum creatine kinase activity is useful in the detection of carriers of the X-linked gene for Duchenne muscular dystrophy (DMD). For genetic counselling this assay has been used in conjunction with pedigree analysis to improve estimates of the risk that a female relative of a DMD patient is a carrier. To measure the impact of the program, follow-up information was obtained from women who had received genetic counselling for DMD. Their responses showed that the risk of producing an affected son had been a major factor in their attitude toward family planning, and their reproductive performance correlated inversely with their genetic risk. The decision by the majority of proven carriers to prevent the birth of further male offspring was reflected in a recent decline in the frequency of a known family history of DMD among newly ascertained cases.
血清肌酸激酶活性测定对于检测杜氏肌营养不良症（DMD）X连锁基因的携带者很有用。为了进行遗传咨询，该测定已与系谱分析结合使用，以改进对DMD患者女性亲属成为携带者风险的估计。为了衡量该计划的影响，从接受过DMD遗传咨询的女性那里获得了随访信息。她们的回答表明，生育患病儿子的风险一直是她们对计划生育态度的一个主要因素，并且她们的生殖表现与遗传风险呈负相关。大多数已证实的携带者决定避免再生育男性后代，这反映在新确诊病例中已知DMD家族史的频率最近有所下降。
