DXS10011: studies on structure, allele distribution in three populations and genetic linkage to further q-telomeric chromosome X markers

Int J Legal Med (2004) 118: 313319DOI 10.1007/s00414-004-0467-yORIGINAL ARTICLESandra Hering . Nicola Brundirs . Eberhard Kuhlisch .

Jeanett Edelmann . Ines Plate . Mark Benecke .

Pham Hung Van . Matthias Michael . Reinhard SziborDXS10011: studies on structure, allele distribution in three

populations and genetic linkage to further q-telomeric

chromosome X markersReceived: 2 March 2004 / Accepted: 16 April 2004 / Published online: 10 July 2004

# Springer-Verlag 2004Abstract The hypervariable tetranucleotide STR polymorphism DXS10011 is a powerful marker for forensic

purposes. Investigation of this STR led to an allele

nomenclature which is in consensus with the ISFG

recommendations. DXS10011 is located at Xq28 and

genetically closely linked to DXS7423 and DXS8377 but

is unlinked to HPRTB and more distant X-chromosomal

STRs. DXS10011 is a very complex marker exhibiting

some structural variants within alleles of identical length.

Two types of repeat structure (regular and inter-alleles) are

known and described as types A and B. Two SNPs which

are in strong linkage disequilibrium to the different

sequence types were found in the repeat flanking region.

The type A sequence consists of a long stretch of

uninterrupted homogenous repeats which is highly susceptible to slippage mutation during male meiosis.Keywords X-Chromosome . DXS10011 . Population

study . SequencingS. HeringInstitut fr Rechtsmedizin, Technische Universitt Dresden,

Fetscherstrasse 74,01307 Dresden, GermanyN. Brundirs . I. Plate . R. Szibor (*)

Institut fr Rechtsmedizin, Otto-von-Guericke-Universitt

Magdeburg,Leipziger Strasse 44,39120 Magdeburg, Germanye-mail: [email protected].: [phone]Fax: [phone]E. KuhlischInstitut fr Medizinische Informatik und Biometrie, Technische

Universitt Dresden,Fetscherstrae 74,01307 Dresden, GermanyJ. EdelmannInstitut fr Rechtsmedizin, Universitt Leipzig,

Johannisallee 28,04103 Leipzig, GermanyM. BeneckeInternational Forensic Research & Consulting,

Postfach 250411, 50520 Kln, GermanyP. H. VanInstitute of Medicine, University of Hanoi,

VietnamM. MichaelInstitut fr Rechtsmedizin, Friedrich-Schiller-Universitt Jena,

Frstengraben 23,07743 Jena, GermanyIntroductionThe hypervariable tetranucleotide STR polymorphism

DXS10011, first described by Gerken et al. [1]as

DYS384, is also known as HUMUT413. Allele frequencies were published for Japanese and German population

samples by Matsuki et al. [2, 3], Watanabe et al. [4] and

Koyama et al. [5]. Two types of the repeat structure

(regular and inter-alleles) were described and designed as

type A and type B. DXS10011 is located at Xq28 and is

physically closely linked to DXS7423 and DXS8377.The aim of this study was to implement this highly

polymorphic marker into our routine work...