Typing of X-chromosomal short tandem repeat (STR) loci in a deficiency paternity case revealed a single Mendelian incompatibility between a female child and her putative grandmother, consisting of an opposite homozygosity at locus DXS8378. The presence of a null allele due to a primer binding site mutation on the child’s paternally inherited X chromosome was confirmed by amplification with newly designed DXS8378 external primers. Sequencing analysis showed a point mutation (C > T transition at position 168, according to GenBank accession G08098) in the binding site of the original DXS8378 reverse primer.

Molecular characterization of anull allele at locus DXS8378

ROBINO, Carlo;INTURRI, Serena;GINO, Sarah
2008

Abstract

Typing of X-chromosomal short tandem repeat (STR) loci in a deficiency paternity case revealed a single Mendelian incompatibility between a female child and her putative grandmother, consisting of an opposite homozygosity at locus DXS8378. The presence of a null allele due to a primer binding site mutation on the child’s paternally inherited X chromosome was confirmed by amplification with newly designed DXS8378 external primers. Sequencing analysis showed a point mutation (C > T transition at position 168, according to GenBank accession G08098) in the binding site of the original DXS8378 reverse primer.
22nd ISFG Congress
Copenhagen
21-25 agosto 2007
1
160
161
Paternity testing; X chromosome; Short tandem repeat; DXS8378; Null allele
ROBINO C.; INTURRI S.; VARACALLI S.; PICCININI A.; GINO S
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/49392
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