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ES2651612T3 - Diagnóstico de aneuploidía cromosómica fetal - Google Patents

Diagnóstico de aneuploidía cromosómica fetal Download PDF

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ES2651612T3
ES2651612T3 ES12787077.2T ES12787077T ES2651612T3 ES 2651612 T3 ES2651612 T3 ES 2651612T3 ES 12787077 T ES12787077 T ES 12787077T ES 2651612 T3 ES2651612 T3 ES 2651612T3
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chromosome
chromosomal aneuploidy
dna sequences
nitt
fetal chromosomal
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Jurgen Del-Favero
Dirk Goossens
Lien HEYRMAN
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Multiplicom NV
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Abstract

Un método para la detección de una aneuploidía cromosómica fetal en una mujer embarazada que comprende i) preparar ADN libre flotante a partir de una muestra biológica de dicha mujer embarazada, ii) amplificar un conjunto seleccionado de secuencias de ADN diana de uno o más cromosomas que se presume que son aneuploides y amplificar un conjunto seleccionado de secuencias de ADN diana de uno o más cromosomas que se presume que son euploides en al menos una reacción de PCR múltiplex cuantitativa en la que al menos una secuencia de ADN amplificada comprende al menos un SNP para el que la mujer es heterocigótica en la que las secuencias de ADN amplificadas tienen longitudes inferiores a 140 pares de bases, iii) secuenciar las secuencias de ADN diana amplificadas y iv) calcular la suma de recuentos de lectura para todas las secuencias de ADN amplificadas de una aneuploidía cromosómica sospechosa seguida de normalización, contra la suma de recuentos de lectura para todas las secuencias de ADN amplificadas de un cromosoma euploide de referencia para determinar mediante métodos estadísticos una puntuación establecida indicativa de la presencia de una aneuploidía cromosómica fetal y/o determinación de las proporciones alélicas de los SNP informativos en los que una relación alélica distorsionada es indicativa de la presencia de una aneuploidía cromosómica fetal en dicha mujer embarazada en el que dicha aneuploidía cromosómica fetal es el cromosoma 13 y/o el cromosoma 18 y/o el cromosoma 21 y/o el cromosoma X y/o el cromosoma Y

Description

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(iii) Para cada amplicón del cromosoma 18 y 21, (i) se dividió por (ii)
(iv)
Para cada cromosoma y cada muestra, se calculó el valor promedio de (iii)
(v)
La relación normalizada observada cromosoma 21/cromosoma 18 se calculó dividiendo promedios calculados en
(iv)
por AEP y ATP
5 La Figura 3 muestra un gráfico del número observado (calculado como anteriormente) y esperado (es decir, valores teóricos) de lecturas para amplicones del cromosoma 21 de la muestra de ADN descendente.
Estos datos muestran que se puede hacer una distinción clara entre una muestra de ADN euploide normal y una muestra de ADN del cromosoma 21 (es decir, síndrome de Down).
Para evaluar la viabilidad de distinguir entre una muestra euploide (representada por las muestras artificiales AEP) y 10 una muestra artificial de aneuploidía del cromosoma 21 que contiene 20% de ADN derivado de trisomía del cromosoma 21, los cálculos anteriores se realizaron en las muestras ATP relativas a las muestras AEP.
Una presencia del 20% de ADN de trisomía en las muestras de ATP debería dar como resultado un aumento del 10% en el recuento de amplicones del cromosoma 21 en comparación con las muestras de AEP. De hecho, utilizando los cálculos anteriores, la figura 4 muestra una clara distinción entre las muestras de AEP y ATP que
15 reflejan un aumento de aproximadamente 10% en el cromosoma 21 en las dos muestras de ATP.
Materiales y métodos
1. Secuencias de cebador usadas en los ejemplos
Tabla 1: Lista de 30 pares de cebadores que componen el ensayo MASTR de detección de aneuploidía del cromosoma 21
Amplic ón
Cro m Avance Retroceso
NITT_ 089
cr 18 AAGACTCGGCAGCATCTCCATTTGGAGTTAG CTTGACTTTGG GCGATCGTCACTGTTCTCCAGAGATGGTATTA GGAAGGTTTGGT
NITT_ 092
cr 18 AAGACTCGGCAGCATCTCCACACTTTCTCCT AACACCCTTGG GCGATCGTCACTGTTCTCCAGTGGGTGTCCTT AGGGGTCT
NITT_ 096
cr 18 AAGACTCGGCAGCATCTCCATCAGCACTCCC TCCATGA GCGATCGTCACTGTTCTCCACTCAAAGAAATG GAAGAGAATACAAAA
NITT_ 097
cr 18 AAGACTCGGCAGCATCTCCACCTGCATCTTG ACACAGTCG GCGATCGTCACTGTTCTCCAGGCATCCAGGAG GAGAAAA
NITT_ 093
cr 18 AAGACTCGGCAGCATCTCCAGGATGGTCAC AGTGGGTCA GCGATCGTCACTGTTCTCCAGAAGAGGGGAGA AGTAGAGGTTAAA
NITT_ 085
cr 18 AAGACTCGGCAGCATCTCCATAAGCAAACAG CAGCACAAAA GCGATCGTCACTGTTCTCCAGAGGGAATCTGT AATCCACATGA
NITT_ 094
cr 18 AAGACTCGGCAGCATCTCCACCAGAGTGGA ATTGCTGAGAC GCGATCGTCACTGTTCTCCACTCCTTCTCTTTC TTCTTCTTCT AAGC
12
Amplic ón
Cro m Avance Retroceso
NITT_ 084
cr 18 AAGACTCGGCAGCATCTCCATGCAGATGGA GGACATCGT GCGATCGTCACTGTTCTCCATTAAATTTGCTCT TGGTATACTTCTTG
NITT_ 083
cr 18 AAGACTCGGCAGCATCTCCATGGTCCAGTTG GAGGGTCT GCGATCGTCACTGTTCTCCATCACAGATGACAT GGAAAATAAGC
NITT_ 091
cr 18 AAGACTCGGCAGCATCTCCATAAAAGTGCCT TTGAACTCTGACTA GCGATCGTCACTGTTCTCCACCCATGTGAAAT CGCATAGTT
NITT_ 050
cr 21 AAGACTCGGCAGCATCTCCACATCCAGGAC CTACCATCTTG GCGATCGTCACTGTTCTCCACAACGCTGGCAT TCAAAA
NITT_ 010
cr 21 AAGACTCGGCAGCATCTCCACCTTCTCACTC ACCTCTTTCTTG GCGATCGTCACTGTTCTCCAGTGTGCAGAGGA GAGACATGA
NITT_ 011
cr 21 AAGACTCGGCAGCATCTCCATGTGTGTGTGT TCTCTACCTTGG GCGATCGTCACTGTTCTCCATATGAGTAGGTG TCTGGTGTATGAAAA
NITT_ 047
cr 21 AAGACTCGGCAGCATCTCCAGCAAATCTGGT ACTGGGTATGA GCGATCGTCACTGTTCTCCATCAGATAGTATG GATAAAGGCAATGA
NITT_ 006
cr 21 AAGACTCGGCAGCATCTCCACAATAATCAGA CTTTGCCTTGG GCGATCGTCACTGTTCTCCACATTAAGGGTCTT AGGGTGGTAAA
NITT_ 049
cr 21 AAGACTCGGCAGCATCTCCATCCTGTTGGG GAAATTGG GCGATCGTCACTGTTCTCCAGAAGATAGAGTTT CTCCTGCATCA
NITT_ 017
cr 21 AAGACTCGGCAGCATCTCCAGGAACAGGTG CACACATCA GCGATCGTCACTGTTCTCCACAGCACTGTCCA GCACTTG
NITT_ 007
cr 21 AAGACTCGGCAGCATCTCCACAGCTGTAACC TGCTGAGAAAA GCGATCGTCACTGTTCTCCAGTCTTAATTCTGC TCAGGAAAAGC
NITT_ 009
cr 21 AAGACTCGGCAGCATCTCCAGAACAGCATTC CTCCTCCTAGT GCGATCGTCACTGTTCTCCATTGAACCATAAAT GTCAGCTCTTG
NITT_ 070
cr 21 AAGACTCGGCAGCATCTCCACCTCACATGTC TGTGCATTAAAA GCGATCGTCACTGTTCTCCATTCCCTCTTCACA TTCTGCTC
NITT_ 071
cr 21 AAGACTCGGCAGCATCTCCAGACACAACATC AGAGGCAATCT GCGA TCGTCACTGTTCTCCACTCTTCAAACAGAGAAA ACTTAGATGA
13
Amplic ón
Cro m Avance Retroceso
NITT_ 016
cr 21 AAGACTCGGCAGCATCTCCATCAGGGTAGA GAATCAGAATTGG GCGATCGTCACTGTTCTCCACAGAGATCAACC GGAGAAGTAAA
NITT_ 076
cr 21 AAGACTCGGCAGCATCTCCACCACGGATCC ACTGCATA GCGATCGTCACTGTTCTCCAGTTCTCTGTAAGT GAAAGCATCCTAAA
NITT_ 057
cr 21 AAGACTCGGCAGCATCTCCATCTGGTCTAAA TAAAGTCTTCACATCA GCGATCGTCACTGTTCTCCAGAGGTAGGAAAT GCACCATCA
NITT_ 020
cr 21 AAGACTCGGCAGCATCTCCACAGAGGCCAT GCCAGTAGT GCGATCGTCACTGTTCTCCAGAAAGTCTGGGA GGTTGAAGC
NITT_ 039
cr 21 AAGACTCGGCAGCATCTCCATGCCATCAGAA CCCGTAAA GCGATCGTCACTGTTCTCCACACACAGAAGCA CAGGAAAATC
NITT_ 059
cr 21 AAGACTCGGCAGCATCTCCACCTTCTCTGCC TCCATTCTAGT GCGATCGTCACTGTTCTCCATAGTGTCCGATAA TGAAGAACAGTAAA
NITT_ 053
cr 21 AAGACTCGGCAGCATCTCCATGGCTAAGCA CATACCCTTAAA GCGATCGTCACTGTTCTCCACTGACACAAATG AAGGCAAAA
NITT_ 044
cr 21 AAGACTCGGCAGCATCTCCATCTCCATTCCT TCTGCTCTTAGT GCGATCGTCACTGTTCTCCAGAACTCACTCTG GAAGCAATGA
NITT_ 072
cr 21 AAGACTCGGCAGCATCTCCAGAAAGCTGGG CGTATTGG GCGATCGTCACTGTTCTCCAGAACATTCTGAAC ATCTGGAA TGA
2. Principio del ensayo MASTR
Los pares de cebadores se probaron primero en reacciones de PCR simples en 20 ng de ADN genómico usando 10 pmol por cebador; los otros parámetros fueron iguales a los de la PCR multiplex. Las reacciones de PCR múltiple se
5 realizaron con 50 ng de ADN genómico en una reacción de 25 ml que contenía tampón de PCR Taq Titanium™ (Clontech, Palo Alto, CA) con una concentración final de 0.25 mM para cada dNTP (Invitrogen, Carlsbad, CA) y un total de 0.125 ml de ADN polimerasa Taq Titanium™ (Clontech). Las concentraciones de cebador se optimizaron y variaron entre 0.05 pmol/ml y 0.2 pmol/ml de concentración final.
El ensayo final múltiple (ensayo MASTR) se utilizó para amplificar todas las muestras de ADN. La primera reacción
10 de PCR se realizó en 50 ng de ADN con los siguientes ajustes: desnaturalización inicial de la muestra 10 min a 95°C seguida de 20 ciclos cada uno que consta de: 45 seg a 95°C, 45 seg a 60°C y 2 min a 68°C que finaliza con un paso de extensión final de 10 min a 72°C (consulte la Figura 5).
Los fragmentos de PCR resultantes se diluyeron 1000 veces seguido de una segunda etapa de PCR para incorporar el código de barras individual. Las condiciones de PCR de este paso son idénticas a las condiciones del primer paso
15 de PCR (ver Figura 6).
14
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Claims (1)

  1. imagen1
ES12787077.2T 2011-10-18 2012-10-18 Diagnóstico de aneuploidía cromosómica fetal Active ES2651612T3 (es)

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Families Citing this family (23)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES2651612T3 (es) 2011-10-18 2018-01-29 Multiplicom Nv Diagnóstico de aneuploidía cromosómica fetal
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3521454A1 (en) 2014-05-09 2019-08-07 LifeCodexx AG Detection of dna that originates from a specific cell-type and related methods
EP2942400A1 (en) 2014-05-09 2015-11-11 Lifecodexx AG Multiplex detection of DNA that originates from a specific cell-type
WO2016038929A1 (ja) * 2014-09-11 2016-03-17 富士フイルム株式会社 胎児染色体の異数性の有無を検出する方法
WO2016045106A1 (zh) * 2014-09-26 2016-03-31 深圳华大基因股份有限公司 单细胞染色体的cnv分析方法和检测装置
JP2016067268A (ja) * 2014-09-29 2016-05-09 富士フイルム株式会社 胎児の染色体異数性の非侵襲的判別方法
CA3011029A1 (en) * 2015-01-15 2017-07-21 Good Start Genetics, Inc. Methods of quality control using single-nucleotide polymorphisms in pre-implantation genetic screening
CN104593503B (zh) * 2015-01-22 2016-08-17 北京嘉宝仁和医疗科技有限公司 一种检测胎儿三倍体的引物组、方法及试剂盒
BE1022789B1 (nl) * 2015-07-17 2016-09-06 Multiplicom Nv Werkwijze en systeem voor geslachtsinschatting van een foetus van een zwangere vrouw
BE1023274A9 (nl) * 2015-07-17 2017-03-17 Multiplicom Nv Schattingswerkwijze en -systeem voor het schatten van een foetale fractie
BE1022771B1 (nl) 2015-10-14 2016-08-31 Multiplicom Nv Werkwijze en systeem om te bepalen of een vrouw zwanger is op basis van een bloedstaal
DK3168309T3 (da) 2015-11-10 2020-06-22 Eurofins Lifecodexx Gmbh Detektion af føtale kromosomale aneuploidier under anvendelse af dna-regioner med forskellig metylering mellem fosteret og det gravide hunkøn
SG11201804651XA (en) * 2015-12-04 2018-07-30 Green Cross Genome Corp Method for determining copy-number variation in sample comprising mixture of nucleic acids
EP3529378A4 (en) * 2016-10-19 2020-05-27 Samuel Williams CHROMOSOMAL ASSESSMENT FAST LAMP ANALYSIS
JP2020512000A (ja) * 2017-03-31 2020-04-23 プレマイサ リミテッド 胎児の染色体異常を検出する方法
EP3988672B1 (en) * 2017-04-18 2023-08-23 Agilent Technologies, Inc. Use of off-target sequences for dna analysis
CN108342455B (zh) * 2017-06-25 2021-11-30 北京新羿生物科技有限公司 一种从母体外周血检测胎儿非整倍体染色体的方法及其试剂盒
CN109112209B (zh) * 2017-06-25 2022-06-24 国家卫生计生委科学技术研究所 用于无创产前检测胎儿非整倍体染色体的参考品
CN109321641B (zh) * 2018-11-06 2019-09-13 苏州首度基因科技有限责任公司 一种基于dna片段富集及测序技术的产前无创胎儿染色体检测系统
CN109971846A (zh) * 2018-11-29 2019-07-05 时代基因检测中心有限公司 使用双等位基因snp靶向下一代测序的非侵入性产前测定非整倍体的方法
WO2021134513A1 (zh) * 2019-12-31 2021-07-08 深圳华大医学检验实验室 确定染色体非整倍性、构建分类模型的方法和装置
CN114898802B (zh) * 2022-07-14 2022-09-30 臻和(北京)生物科技有限公司 基于血浆游离dna甲基化测序数据的末端序列频率分布特征确定方法、评价方法及装置

Family Cites Families (21)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
EP1165839A2 (en) * 1999-03-26 2002-01-02 Whitehead Institute For Biomedical Research Universal arrays
US6979541B1 (en) 2001-07-26 2005-12-27 University Of Utah Research Foundation Methods for identifying chromosomal aneuploidy
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
SG119192A1 (en) * 2003-06-27 2006-02-28 Parkway Lab Services Ltd Detection of aneuploidy
US20050277147A1 (en) * 2004-06-11 2005-12-15 Ameet Patki Identifying chromosomal abnormalities in cells obtained from follicular fluid
WO2006031524A2 (en) * 2004-09-10 2006-03-23 The Regents Of The Unversity Of Colorado Early detection of hemangiosarcoma and angiosarcoma
US7645576B2 (en) * 2005-03-18 2010-01-12 The Chinese University Of Hong Kong Method for the detection of chromosomal aneuploidies
WO2007100911A2 (en) 2006-02-28 2007-09-07 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
AU2007260676A1 (en) * 2006-06-14 2007-12-21 Artemis Health, Inc. Rare cell analysis using sample splitting and DNA tags
EP2029779A4 (en) 2006-06-14 2010-01-20 Living Microsystems Inc HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS
EP3892736A1 (en) 2007-07-23 2021-10-13 The Chinese University of Hong Kong Determining a nucleic acid sequence imbalance
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
HUE031848T2 (en) 2008-09-20 2017-08-28 Univ Leland Stanford Junior Non-invasive diagnosis of fetal aneuploidy by sequencing
EP2516680B1 (en) 2009-12-22 2016-04-06 Sequenom, Inc. Processes and kits for identifying aneuploidy
EP2524056A4 (en) 2010-01-15 2013-08-14 Univ British Columbia MULTIPLEX REINFORCEMENT FOR DETECTING NUCLEIC ACID VARIATIONS
EP2569447A4 (en) 2010-05-14 2013-11-27 Fluidigm Corp ASSAYS FOR THE DETECTION OF GENOTYPES, MUTATIONS OR ANEUPLOIDY
EP2633311A4 (en) 2010-10-26 2014-05-07 Univ Stanford NONINVASIVE FETAL GENETIC SCREENING THROUGH SEQUENCING ANALYSIS
WO2012118745A1 (en) 2011-02-28 2012-09-07 Arnold Oliphant Assay systems for detection of aneuploidy and sex determination
LT3567124T (lt) 2011-04-12 2022-04-11 Verinata Health, Inc. Genominių frakcijų paskirstymas, naudojant polimorfizmo skaičiavimo rezultatus
ES2651612T3 (es) 2011-10-18 2018-01-29 Multiplicom Nv Diagnóstico de aneuploidía cromosómica fetal

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