Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation.
The sizes of the fragile X mutation in 33 sib pairs affected with fragile X syndrome were determined by Southern blot analysis. An age-dependent decrease in the size of the mutation was found, suggesting positive selection of blood cells carrying small mutations during life or maternal imprinting.
Mornet
E
E
Centre d'Etudes de Biologie Prénatale, Paris, France.
Jokic
M
M
Bogyo
A
A
Tejada
I
I
Deluchat
C
C
Boué
J
J
Boué
A
A
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001482:Base Composition; D015139:Blotting, Southern; D002648:Child; D004247:DNA / Q000032:analysis; D004587:Electrophoresis, Agar Gel; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008423:Maternal Age; D008875:Middle Aged; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length
D004247:DNA