ISSN:
1435-232X
Keywords:
Key words Myotonic dystrophy
;
Myotonin protein kinase gene
;
Polymorphism
;
Sac I digestion
;
3′-untranslated region
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract We found a novel Sac I polymorphism downstream of CTG repeats in the 3′ untranslated region of the myotonin protein kinase (MT-PK) gene. A C to G transition at nucleotide 13,590 in the gene was revealed by Southern blotting and confirmed by sequencing analyses. The allelic frequency of the C : G polymorphism in 63 unrelated Japanese individuals was estimated to be 0.98: 0.02. When Southern blotting is employed in the analysis of the CTG repeat length in the MT-PK gene, this Sac I polymorphism should be taken into consideration.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050128
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