利用血清肌酸激酶、丙酮酸激酶及基因连锁分析进行杜氏和贝克肌营养不良症携带者检测

Use of serum creatine kinase, pyruvate kinase, and genetic linkage for carrier detection in Duchenne and Becker dystrophy.

作者信息

Hyser C L, Griggs R C, Mendell J R, Polakowska R, Quirk S, Brooke M H, Fenichel G M, Doherty R A

出版信息

Neurology. 1987 Jan;37(1):4-10. doi: 10.1212/wnl.37.1.4.

DOI:10.1212/wnl.37.1.4

Abstract

Carrier detection in Duchenne dystrophy (DD) and Becker dystrophy (BD) can be achieved with DNA probes that recognize restriction fragment length polymorphisms (RFLPs). In 22 families, we found that 16 of 23 females at risk for being DD or BD carriers could be provided with more definitive indications of carrier status beyond the use of creatine kinase/pyruvate kinase and pedigree analysis. RFLP analysis was not possible for six individuals despite potentially informative probes, because family members critical to the analysis were unavailable. In only one instance were all eight probes uninformative.

摘要

利用能识别限制性片段长度多态性（RFLP）的DNA探针，可实现对杜氏肌营养不良症（DD）和贝克肌营养不良症（BD）携带者的检测。在22个家庭中，我们发现，在23名有成为DD或BD携带者风险的女性中，有16名除了使用肌酸激酶/丙酮酸激酶和系谱分析外，还能获得关于携带者状态更明确的指征。尽管有潜在的信息性探针，但有6个人无法进行RFLP分析，因为对分析至关重要的家庭成员无法找到。只有一例中所有8个探针都无信息价值。