False deletion of the D15S986 maternal allele in a suspected case of Angelman syndrome.

Clinica Chimica Acta(2015)

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摘要
•A maternal deletion at D15S986 was reported in a suspected case of Angelman syndrome.•It is caused by allele dropout due to a polymorphism in the middle of the forward primer.•The population frequency of the newly detected allele among Europeans is about 12%.•An alternative primer set is developed.
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关键词
Angelman syndrome,D15S986,ATP10C,Allele dropout,Genetic polymorphism
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