Molecular characterization of a null allele at locus DXS8378

C. Robino; S. Inturri; S. Varacalli; A. Piccinini; S. Gino; C. Torre

doi:10.1016/j.fsigss.2007.10.124

Molecular characterization of a null allele at locus DXS8378

C. Robino, S. Inturri, S. Varacalli, A. Piccinini, S. Gino, C. Torre

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	160-161
Number of pages	2
Journal	Forensic Science International: Genetics Supplement Series
Volume	1
Issue number	1
DOIs	https://doi.org/10.1016/j.fsigss.2007.10.124
Publication status	Published - Aug 2008
Externally published	Yes

Keywords

DXS8378
Null allele
Paternity testing
Short tandem repeat
X chromosome

Access to Document

10.1016/j.fsigss.2007.10.124

Cite this

@article{808fa813c10f432783cd7bcf4f61a3b4,

title = "Molecular characterization of a null allele at locus DXS8378",

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.",

keywords = "DXS8378, Null allele, Paternity testing, Short tandem repeat, X chromosome",

author = "C. Robino and S. Inturri and S. Varacalli and A. Piccinini and S. Gino and C. Torre",

year = "2008",

month = aug,

doi = "10.1016/j.fsigss.2007.10.124",

language = "English",

volume = "1",

pages = "160--161",

journal = "Forensic Science International: Genetics Supplement Series",

issn = "1875-1768",

publisher = "Elsevier B.V.",

number = "1",

}

TY - JOUR

T1 - Molecular characterization of a null allele at locus DXS8378

AU - Robino, C.

AU - Inturri, S.

AU - Varacalli, S.

AU - Piccinini, A.

AU - Gino, S.

AU - Torre, C.

PY - 2008/8

Y1 - 2008/8

N2 - 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.

AB - 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.

KW - DXS8378

KW - Null allele

KW - Paternity testing

KW - Short tandem repeat

KW - X chromosome

UR - http://www.scopus.com/inward/record.url?scp=50349096675&partnerID=8YFLogxK

U2 - 10.1016/j.fsigss.2007.10.124

DO - 10.1016/j.fsigss.2007.10.124

M3 - Article

AN - SCOPUS:50349096675

SN - 1875-1768

VL - 1

SP - 160

EP - 161

JO - Forensic Science International: Genetics Supplement Series

JF - Forensic Science International: Genetics Supplement Series

IS - 1

ER -

Molecular characterization of a null allele at locus DXS8378

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this