Molecular Technology and Informatics for Personalised Medicine and Healt

Clarisse, L.

Gaag, K.J. van der

Grol, L.J.W.

Kal, A.J.

Kayser, M.

Knijff, P. de

Kraaijenbrink, T.

Medina, E.A.R. de

Schouten, R.

Sijen, T.

Weiler, N.E.C.

Westen, A.A.

Willemse, P.

Zuniga, S.B.

AbstractThe genotypes of 36 Y-chromosomal short tandem repeat (Y-STR) marker units were analysed in a Dutch population sample of 2085 males. Profiling results were compared for several partially overlapping kits, i.e. PowerPlex Y, Yfiler, PowerPlex Y23, and two in-house designed multiplexes with rapidly mutating Y-STRs. Nineteen Y-STR marker units, of which two are rapidly mutating, reside in at least two of these multiplexes, and for these markers concordance testing was performed. Two samples showed discordant genotyping results and the probable causative base change was revealed by Sanger sequencing. In addition, we encountered concordant, but aberrant genotyping results including one allele with low peak height and several null alleles. For 12 samples, this involved a null allele in two adjacent loci suggesting a large and recurrent deletion as the samples represent three distinct haplogroups. For each marker unit, the allele counts and frequencies are presented, as are the haplotype counts and haplotype diversities for several combinations of markers

Westen, Antoinette A.

Kraaijenbrink, Thirsa

Clarisse, Lindy

Grol, Laurens J.W.

Willemse, Patricia

Zuniga, Sofia B.

Robles de Medina, Elizaveta A.

Schouten, Ron

van der Gaag, Kristiaan J.

Weiler, Natalie E.C.

Kal, Arnoud J.

Kayser, Manfred

Sijen, Titia

de Knijff, Peter

Elsevier - Publisher Connector 

Analysis of 36 Y-STR marker units including a concordance study among 2085 Dutch males 

The genotypes of 36 Y-chromosomal short tandem repeat (Y-STR) marker units were analysed in a Dutch population sample of 2085 males. Profiling results were compared for several partially overlapping kits, i.e. PowerPlex Y, Yfiler, PowerPlex Y23, and two in-house designed multiplexes with rapidly mutating Y-STRs. Nineteen Y-STR marker units, of which two are rapidly mutating, reside in at least two of these multiplexes, and for these markers concordance testing was performed. Two samples showed discordant genotyping results and the probable causative base change was revealed by Sanger sequencing. In addition, we encountered concordant, but aberrant genotyping results including one allele with low peak height and several null alleles. For 12 samples, this involved a null allele in two adjacent loci suggesting a large and recurrent deletion as the samples represent three distinct haplogroups. For each marker unit, the allele counts and frequencies are presented, as are the haplotype counts and haplotype diversities for several combinations of markers. (C) 2014 The Authors. Published by Elsevier Ireland Ltd

Westen, AA

Kraaijenbrink, T

Clarisse, L

Grol, LJW

Willemse, P

Zuniga, SB

de Medina, EAR

Schouten, R

van der Gaag, KJ

Weiler, NEC

Kal, AJ

Sijen, T

de Knijff, P

EUR Research Repository

Analysis of 36 Y-STR marker units including a concordance study among 2085 Dutch males

NARCIS 

The genotypes of 36 Y-chromosomal short tandem repeat (Y-STR) marker units were analysed in a Dutch population sample of 2085 males. Profiling results were compared for several partially overlapping kits, i.e. PowerPlex Y, Yfiler, PowerPlex Y23, and two in-house designed multiplexes with rapidly mutating Y-STRs. Nineteen Y-STR marker units, of which two are rapidly mutating, reside in at least two of these multiplexes, and for these markers concordance testing was performed. Two samples showed discordant genotyping results and the probable causative base change was revealed by Sanger sequencing. In addition, we encountered concordant, but aberrant genotyping results including one allele with low peak height and several null alleles. For 12 samples, this involved a null allele in two adjacent loci suggesting a large and recurrent deletion as the samples represent three distinct haplogroups. For each marker unit, the allele counts and frequencies are presented, as are the haplotype counts and haplotype diversities for several combinations of markers

特集生活習慣病

Abstract

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Elsevier - Publisher Connector

EUR Research Repository

NARCIS

Elsevier - Publisher Connector

EUR Research Repository

Erasmus University Digital Repository

Leiden University Scholary Publications

特集 生活習慣病

Abstract

Similar works

Full text

Available Versions

Elsevier - Publisher Connector

EUR Research Repository

NARCIS

Elsevier - Publisher Connector

EUR Research Repository

Erasmus University Digital Repository

Leiden University Scholary Publications

特集生活習慣病