Article
PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations.
Molecular biology and evolution - 1 Nov 2004
Pusch C M, Broghammer M, Nicholson G J, Nerlich A G, Zink A, Kennerknecht I, Bachmann L, Blin N
Abstract excerpt
Achondroplasia (ACH) is a skeletal disorder (MIM100800) with an autosomal dominant Mendelian inheritance and complete penetrance. Here we report the screening of ancient bone samples for diagnostic ACH mutations. The diagnostic G-->A transition in the FGFR3 gene at cDNA position 1138 was detected in cloned polymerase chain reaction (PCR) products obtained from the dry mummy of the Semerchet tomb, Egypt (first...
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