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 a null allele at locus DXS8378 / C. Robino, S. Inturri, S. Varacalli, A. Piccinini, S. Gino, C. Torre. - In: FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES. - ISSN 1875-1768. - 1:1(2008), pp. 160-161. [10.1016/j.fsigss.2007.10.124]
Molecular characterization of a null allele at locus DXS8378
A. Piccinini;
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.
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
