A novel competitive fluorescent multiplex STR polymorphism assay for rapid, reliable and single-tube screening of 22q11.2 copy-number aberrations

Electrophoresis

Volumn 30, Issue 3, 2009, Pages 465-471

  Yang, Chi ^a,b   Shen, Li ^a,b   Xu, Zhengfeng ^b   Wu, Xiaojian ^a   Mo, Xuming ^b   Zhang, Jingjing ^b   Wang, Dongjin ^a   Wang, Yaping ^a   Peng, Yuzhu ^b   Cao, Li ^b   Jiang, Yongzhong ^b   Gu, Haritao ^b   Chen, Shilin ^a   Bian, Xuming ^c   Liu, Juntao ^c   Qiao, Di ^a   Yi, Long ^a  

^a MEDICAL SCHOOL OF NANJING UNIVERSITY   (China)

^b NANJING MEDICAL UNIVERSITY   (China)

^c PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

22q11.2; Competitive fluorescent multiplex STR polymorphism assay; Deletion; Duplication; Screening

Indexed keywords

COST EFFECTIVENESS; FLUORESCENCE; GENES;

22Q11.2; CHROMOSOMAL ABNORMALITIES; COMPETITIVE FLUORESCENT MULTIPLEX STR POLYMORPHISM ASSAY; COMPLEX PHENOTYPE; COPY NUMBER; DELETION; DUPLICATION; GENE DOSAGE; POLYMORPHISM ASSAYS; SINGLE TUBES;

ASSAYS;

GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

ARTICLE; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME NUMBER; COMPETITIVE FLUORESCENT MULTIPLEX SHORT TANDEM REPEAT POLYMORPHISM ASSAY; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; FETUS; GENE DOSAGE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; RELIABILITY; RISK FACTOR; CHROMOSOME 22; EVALUATION; GENETICS; METABOLISM; METHODOLOGY; NUCLEIC ACID AMPLIFICATION; SPECTROFLUOROMETRY;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; FETUS; GENE DOSAGE; GENETIC SCREENING; HEART DEFECTS, CONGENITAL; HUMANS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYMORPHISM, GENETIC; SPECTROMETRY, FLUORESCENCE;

EID: 64049086821     PISSN: 01730835     EISSN: 15222683     Source Type: Journal    
DOI: 10.1002/elps.200800321     Document Type: Article

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