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Clinical investigation in Duchenne Dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection

 

作者: Robert C. Griggs,   Jerry R. Mendell,   Michael H. Brooke,   Gerald M. Fenichel,   J. Phillip Miller,   Michael Province,   Richard T. Moxley,   Donna Huntzinger,   Arthur Vaughn,   Melinda Cohen,   P. Michael Conneally,   Phillip Bach,  

 

期刊: Muscle&Nerve  (WILEY Available online 1985)
卷期: Volume 8, issue 1  

页码: 60-67

 

ISSN:0148-639X

 

年代: 1985

 

DOI:10.1002/mus.880080111

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

数据来源: WILEY

 

摘要:

AbstractWe have determined the value of creatine and pyruvate kinase (CK and PK) in carrier detection by evaluating 811 females in 73 families participating in the Collaborative Investigation of Duchenne Dystrophy. Thirty‐nine obligate carriers, 244 normal controls (paternal females), as well as 76 possible carriers and 351 carrier suspects had three CK and PK specimens analyzed at a central laboratory. The CK and PK values varied with age in normals: both fell with age early in life, and CK rose after the fifth decade. Discriminant analysis indicated that the combination of mean CK and PK corrected for age yielded the best data for calculation of carrier probability. Using the best model, only 45% of obligate carriers could be identified at a false‐positive rate of 2.5%. Daughters of obligate carriers have a disproportionate decline in CK and PK with age as compared to noncarrier females, suggesting that the rate of carrier detection will be higher in the first two decades. Our low rate of carrier detection, as compared to other studies, may reflect both the age of our obligate carrier population and the use of a control group that is more representative of the carrier populat

 

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