PMID- 30111439
OWN - NLM
STAT- MEDLINE
DCOM- 20181113
LR  - 20181113
IS  - 1009-2137 (Print)
IS  - 1009-2137 (Linking)
VI  - 26
IP  - 4
DP  - 2018 Aug
TI  - [Progress of Clinical Application of SNP-A to MDS--Review].
PG  - 1244-1247
LID - 10.7534/j.issn.1009-2137.2018.04.051 [doi]
AB  - Cytogenetic abnormalities get wide attention for its guidance value for prognosis 
      and therapy in myelodysplastic syndrome (MDS) and related malignancies. 
      Cytogenetic analysis is also the key to clarify the molecular pathogenesis of 
      these kinds of diseases. The traditional karyotyping technique including 
      metaphase cytogenetic (MC) karyotype analysis and immune fluorescence in situ 
      hybridization (FISH) can detect the chromosomal abnormalities to some degree 
      while the positive rate detected by the techniques is low due to the low 
      resolution, dependence on metaphase dividing cells or the limitation of specific 
      sites on the chromosomes, respectively. Although array comparative genomic 
      hybridization (aCGH) makes up for some deficiencies of the techniques above, only 
      copy number variations (CNVs) could be detected by aCGH. Recently, single 
      nucleotide polymorphasim array (SNP-A) are employed to detect chromosomal CNVs 
      and uniparental disomies (UPDs) which are significant for illumination of the 
      pathogenetics and prognosis of MDS. Based on the detection principle and 
      characteristics of SNP-A, this article reviews the clinical application and 
      prospect of the technique in aspect of the detection characteristic of SNP-A, the 
      relationship between cryptic aberrations and MDS related aspects including the 
      pathogenic genes, phenotypes, prognosis, stratification system and self control 
      test.
FAU - Chi, Kun
AU  - Chi K
AD  - Department of Clinical Laborotarial Examination, Qingdao Women & Children's 
      Hospital,Qingdao 266011, Shandong Province,China.
FAU - Jing, Xiang-Yu
AU  - Jing XY
AD  - Department of Clinical Laborotarial Examination, Qingdao Women & Children's 
      Hospital,Qingdao 266011, Shandong Province, China E-mail:jingling-79@163.com.
LA  - chi
PT  - Journal Article
PT  - Review
PL  - China
TA  - Zhongguo Shi Yan Xue Ye Xue Za Zhi
JT  - Zhongguo shi yan xue ye xue za zhi
JID - 101084424
SB  - IM
MH  - Chromosome Aberrations
MH  - Comparative Genomic Hybridization
MH  - DNA Copy Number Variations
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Myelodysplastic Syndromes
MH  - Polymorphism, Single Nucleotide
EDAT- 2018/08/17 06:00
MHDA- 2018/11/14 06:00
CRDT- 2018/08/17 06:00
PHST- 2018/08/17 06:00 [entrez]
PHST- 2018/08/17 06:00 [pubmed]
PHST- 2018/11/14 06:00 [medline]
AID - 1009-2137(2018)04-1244-04 [pii]
AID - 10.7534/j.issn.1009-2137.2018.04.051 [doi]
PST - ppublish
SO  - Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2018 Aug;26(4):1244-1247. doi: 
      10.7534/j.issn.1009-2137.2018.04.051.