PMID- 17949285
OWN - NLM
STAT- MEDLINE
DCOM- 20080115
LR  - 20191210
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 11
IP  - 3
DP  - 2007 Fall
TI  - Multiplex PCR/liquid chromatography assay for screening of subtelomeric 
      rearrangements.
PG  - 241-8
AB  - In idiopathic or nonspecific mental retardation, the overall rate of cryptic 
      subtelomeric rearrangements is estimated to be about 5%. Development of 
      cost-effective screening for subtelomeric deletions would help clinical 
      geneticists to make specific diagnoses in children with idiopathic mental 
      retardation. Current screening modalities include fluorescence in situ 
      hybridization (FISH) using subtelomeric probes and PCR-based quantitative 
      analyses. Reductions in the cost and turnaround time will make the complete 
      screening of subtelomeric rearrangements more widely used in clinical settings. 
      Recently, a versatile method, called the multiplex PCR/liquid chromatography 
      assay (MP/LC), was developed to assess copy numbers in this assay. Multiple 
      genomic regions are amplified using unlabeled primers, then separated by ion-pair 
      reversed-phase high-performance liquid chromatography. In the present study, we 
      developed an MP/LC-based subtelomeric screening system that involves 21 multiple 
      reactions and validated the protocol by analyzing 16 publicly available cell 
      lines with known cytogenetic abnormalities involving at least one subtelomere per 
      patient. To confirm the validity of the MP/LC method, we analyzed these cell 
      lines concurrently with array-based comparative genomic hybridization 
      (array-CGH), which gives higher resolution than the conventional G-banding 
      technique. Among those 16 samples, the results from MP/LC and array-CGH agreed 
      with each other perfectly. In 2 of the 16 samples, MP/LC correctly revealed 
      subtelomeric duplications that were detected by array-CGH but were undetected by 
      conventional cytogenetics, demonstrating the sensitivity of the MP/LC assay. This 
      system is expected to be useful for making specific diagnoses and in genetic 
      counseling for children with idiopathic mental retardation, a sizable fraction of 
      whom have subtelomeric rearrangements.
FAU - Udaka, Toru
AU  - Udaka T
AD  - Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
FAU - Imoto, Issei
AU  - Imoto I
FAU - Aizu, Yoshinori
AU  - Aizu Y
FAU - Torii, Chiharu
AU  - Torii C
FAU - Izumi, Kosuke
AU  - Izumi K
FAU - Kosaki, Rika
AU  - Kosaki R
FAU - Takahashi, Takao
AU  - Takahashi T
FAU - Hayashi, Shin
AU  - Hayashi S
FAU - Inazawa, Johji
AU  - Inazawa J
FAU - Kosaki, Kenjiro
AU  - Kosaki K
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
RN  - 0 (DNA Primers)
SB  - IM
MH  - Cell Line
MH  - Chromatography, Liquid/*methods
MH  - *Chromosome Aberrations
MH  - Chromosome Deletion
MH  - DNA Primers/chemistry
MH  - *Genetic Testing
MH  - Humans
MH  - Nucleic Acid Hybridization
MH  - Polymerase Chain Reaction/*methods
MH  - Telomere/*genetics
EDAT- 2007/10/24 09:00
MHDA- 2008/01/16 09:00
CRDT- 2007/10/24 09:00
PHST- 2007/10/24 09:00 [pubmed]
PHST- 2008/01/16 09:00 [medline]
PHST- 2007/10/24 09:00 [entrez]
AID - 10.1089/gte.2007.9993 [doi]
PST - ppublish
SO  - Genet Test. 2007 Fall;11(3):241-8. doi: 10.1089/gte.2007.9993.