Allele non-amplification: a source of confusion in linkage studies employing microsatellite polymorphisms.
Microsatellite polymorphisms provide highly informative readily detectable markers for human linkage studies. This paper reports apparent non-Mendelian inheritance of a dinucleotide repeat polymorphism due to allele non-amplification. The previously hidden allele was revealed and Mendelian inheritance restored when a new CA strand primer was used for amplification. Sequencing of the hidden allele identified a single base substitution at the 3'-most position of the binding site for the original CA strand primer. Allele non-amplification is a potential source of confusion in linkage studies employing polymorphisms detected by the polymerase chain reaction. It should be considered whenever apparent non-Mendelian inheritance or non-paternity are encountered.
Koorey
D J
DJ
A.W. Morrow Gastroenterology and Liver Center, Royal Prince Alfred Hospital, Sydney, Australia.
Bishop
G A
GA
McCaughan
G W
GW
D000483:Alleles; D001483:Base Sequence; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
D004276:DNA, Satellite; D005819:Genetic Markers; D009838:Oligodeoxyribonucleotides