Characteristics of D5S818 mutations revealed through study of a flanking marker

Michael Edwards; Robert W. Allen

doi:10.1016/S0531-5131(03)01777-1

Characteristics of D5S818 mutations revealed through study of a flanking marker

Michael Edwards, Robert W. Allen

School of Forensic Sciences

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

Abstract

A cytosine/thymosine (C/T) polymorphism was discovered 13 nucleotides upstream from the 5′ end of the tandem array of the D5S818 locus (−13 SNP). The −13 SNP coincidently creates a restriction site polymorphism for the restriction endonuclease SnaB1 that is tightly linked to the D5S818 tandem array. RFLP mapping of the −13 SNP was used to characterize 40 D5S818 addition/deletion mutations encountered in routine parentage testing. Most mutations showed paternal bias and single repeat changes to the tandem array. In 19 instances, it was possible to identify the parental allele that underwent the mutation. Alleles 13 and 14 were especially prone to mutation whereas allele #11 was unexpectedly resistant.

Original language	English
Pages (from-to)	33-35
Number of pages	3
Journal	International Congress Series
Volume	1261
Issue number	C
DOIs	https://doi.org/10.1016/S0531-5131(03)01777-1
State	Published - 1 Apr 2004

Keywords

D5S818 STR locus
Mutations
Parentage testing

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10.1016/S0531-5131(03)01777-1

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title = "Characteristics of D5S818 mutations revealed through study of a flanking marker",

abstract = "A cytosine/thymosine (C/T) polymorphism was discovered 13 nucleotides upstream from the 5′ end of the tandem array of the D5S818 locus (−13 SNP). The −13 SNP coincidently creates a restriction site polymorphism for the restriction endonuclease SnaB1 that is tightly linked to the D5S818 tandem array. RFLP mapping of the −13 SNP was used to characterize 40 D5S818 addition/deletion mutations encountered in routine parentage testing. Most mutations showed paternal bias and single repeat changes to the tandem array. In 19 instances, it was possible to identify the parental allele that underwent the mutation. Alleles 13 and 14 were especially prone to mutation whereas allele #11 was unexpectedly resistant.",

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AU - Allen, Robert W.

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N2 - A cytosine/thymosine (C/T) polymorphism was discovered 13 nucleotides upstream from the 5′ end of the tandem array of the D5S818 locus (−13 SNP). The −13 SNP coincidently creates a restriction site polymorphism for the restriction endonuclease SnaB1 that is tightly linked to the D5S818 tandem array. RFLP mapping of the −13 SNP was used to characterize 40 D5S818 addition/deletion mutations encountered in routine parentage testing. Most mutations showed paternal bias and single repeat changes to the tandem array. In 19 instances, it was possible to identify the parental allele that underwent the mutation. Alleles 13 and 14 were especially prone to mutation whereas allele #11 was unexpectedly resistant.

AB - A cytosine/thymosine (C/T) polymorphism was discovered 13 nucleotides upstream from the 5′ end of the tandem array of the D5S818 locus (−13 SNP). The −13 SNP coincidently creates a restriction site polymorphism for the restriction endonuclease SnaB1 that is tightly linked to the D5S818 tandem array. RFLP mapping of the −13 SNP was used to characterize 40 D5S818 addition/deletion mutations encountered in routine parentage testing. Most mutations showed paternal bias and single repeat changes to the tandem array. In 19 instances, it was possible to identify the parental allele that underwent the mutation. Alleles 13 and 14 were especially prone to mutation whereas allele #11 was unexpectedly resistant.

KW - D5S818 STR locus

KW - Mutations

KW - Parentage testing

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DO - 10.1016/S0531-5131(03)01777-1

M3 - Article

AN - SCOPUS:85023107930

SN - 0531-5131

VL - 1261

SP - 33

EP - 35

JO - International Congress Series

JF - International Congress Series

IS - C

ER -

Characteristics of D5S818 mutations revealed through study of a flanking marker

Abstract

Keywords

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