Serum XXXX in muscular dystrophy and carrier detection.

@entity1 @entity908 @entity1555 @entity5632 @entity121
Serum @entity5632 was measured by radioimmunoassay in 143 @entity1 with various @entity121 including 55 @entity1 with @entity1555 , 56 carriers of the @entity1555 gene, 8 carriers of the @entity1555 gene, 60 first-degree relatives of @entity1 with sporadic (non-genetically transmitted) @entity121 and 85 normal controls. A significant difference (P less than 0.001) was found between the serum @entity5632 levels in normal control @entity1 (x = 31.7 range 10-70 microgram/l) and those in @entity1 (x = 17.2 range 4-27 microgram/l) but no difference was found between the controls and relatives of @entity1 with @entity121 . Up to the age of 60 years, no correlation was found between age and serum @entity5632 levels in controls. However, levels in @entity1 with @entity1555 were found to increase slightly up to the age of 10 years and to decrease thereafter. No correlation was found between serum @entity5632 and @entity908 kinase activity in these @entity1 but in Duchenne carriers correlation was close (P less than 0.001). Eighteen of 23 definite and 13 of 33 possible carriers of @entity1555 had @entity5632 concentrations above the equivalent normal range. Of those carriers with elevated @entity5632 levels, 7 definite and 4 possible carriers had normal serum @entity908 kinase activity. This was equivalent to an improvement in "detection" of 31% and 12% in these groups of carriers. Of the 8 @entity1555 carriers, 6 had elevated @entity5632 but all had normal @entity908 kinase levels. It appears that measurement of serum @entity5632 as well as @entity908 kinase activity may be of great benefit to carrier detection programmers, but the need to establish accurately the extent of normal variation in @entity1 is emphasized.
