PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis

被引：10

作者：

Antson, DO ^{[1
]}

Mendel-Hartvig, M ^{[1
]}

Landegren, U ^{[1
]}

Nilsson, M ^{[1
]}

机构：

[1] Rudbeck Lab, Dept Genet & Pathol, Beijer Lab, SE-75185 Uppsala, Sweden

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2003年 / 11卷 / 05期

关键词：

padlock probes; ligation; alpha satellite DNA; centromeres; single-nucleoticle polymorphism; genotyping;

D O I：

10.1038/sj.ejhg.5200966

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Conventional cytogenetic techniques can distinguish homologous chromosomes in a qualitative manner based upon obvious morphological features or using in situ hybridization methods that yield qualitative data. We have developed a method for quantitative genotyping of single-nucleotide variants in situ using circularizable DNA probes, so-called padlock probes, targeting two different alpha satellite repeat variants present in human chromosome 7 centromeres, and a single-nucleotide variation in alpha satellite repeats on human chromosome 15 centromeres. By using these PCR-generated padlock probes, we could quantitatively distinguish homologous chromosomes and follow the transmission of the chromosomes by in situ analysis during three consecutive generations.

引用

页码：357 / 363

页数：7

共 26 条

[1] PCR-generated padlock probes detect single nucleotide variation in genomic DNA
Antson, D. -O.
Isaksson, A.
Landegren, U.
Nilsson, M.
[J]. NUCLEIC ACIDS RESEARCH, 2000, 28 (12) : 58
[2] Double and triple in situ chromosomal labeling of human spermatozoa by PRINS
Coignet, L
Girardet, A
Andreo, B
Charlieu, JP
Pellestor, F
[J]. CYTOGENETICS AND CELL GENETICS, 1996, 73 (04): : 300 - 303
[3] PROBABLE ASSIGNMENT OF DUFFY BLOOD GROUP LOCUS TO CHROMOSOME 1 IN MAN
DONAHUE, RP
BIAS, WB
RENWICK, JH
MCKUSICK, VA
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1968, 61 (03) : 949 - +
[4] PATTERNS OF INTRAARRAY AND INTERARRAY SEQUENCE VARIATION IN ALPHA SATELLITE FROM THE HUMAN X-CHROMOSOME - EVIDENCE FOR SHORT-RANGE HOMOGENIZATION OF TANDEMLY REPEATED DNA-SEQUENCES
DURFY, SJ
WILLARD, HF
[J]. GENOMICS, 1989, 5 (04) : 810 - 821
[5] CHROMOSOME-SPECIFIC SUBFAMILIES WITHIN HUMAN ALPHOID REPETITIVE DNA
JORGENSEN, AL
BOSTOCK, CJ
BAK, AL
[J]. JOURNAL OF MOLECULAR BIOLOGY, 1986, 187 (02) : 185 - 196
[6] OLIGONUCLEOTIDE-PRIMING METHODS FOR THE CHROMOSOME-SPECIFIC LABELING OF ALPHA-SATELLITE DNA INSITU
KOCH, JE
KOLVRAA, S
PETERSEN, KB
GREGERSEN, N
BOLUND, L
[J]. CHROMOSOMA, 1989, 98 (04) : 259 - 265
[7] Improved detection and comparative sizing of human chromosomal telomeres in situ
Krejcí, K
Koch, J
[J]. CHROMOSOMA, 1998, 107 (03) : 198 - 203
[8] LORBER BJ, 1992, AM J HUM GENET, V51, P1265
[9] HOMOLOGY BETWEEN HUMAN AND SIMIAN REPEATED DNA
MANUELIDIS, L
WU, JC
[J]. NATURE, 1978, 276 (5683) : 92 - 94
[10] Synthesis and application of circularizable ligation probes
Myer, SE
Day, DJ
[J]. BIOTECHNIQUES, 2001, 30 (03) : 584 - +

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