PMID- 20059380
OWN - NLM
STAT- MEDLINE
DCOM- 20100729
LR  - 20221207
IS  - 1945-0257 (Electronic)
IS  - 1945-0257 (Linking)
VI  - 14
IP  - 2
DP  - 2010 Apr
TI  - A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese 
      retinoblastoma pedigree.
PG  - 193-6
LID - 10.1089/gtmb.2009.0162 [doi]
AB  - Retinoblastoma (RB) is the most common malignant intraocular tumor in children. 
      Fifty percent of RB patients are carriers of a predisposing germline mutation 
      with high penetrance. RB1 has been identified as the only pathological gene. We 
      present the rapid detection of an RB1 gene mutation in a Han pedigree of two RB 
      patients from southern China. Total RNA was extracted from whole blood for 
      reverse transcriptase-polymerase chain reaction (PCR) to analyze RB1 transcripts, 
      and genomic DNA for PCR and direct sequencing to test RB1 exons. Allele-specific 
      PCR was used to verify the mutation. The results showed that the bilaterally 
      affected son and the unilaterally affected father were both heterozygous for the 
      nonsense mutation c.1363C>T (p.R455X) in exon 14 of RB1. Our studies suggest the 
      molecular basis of RB in this Chinese family and provide further evidence that 
      codon 455 is one of the recurrent spots for mutations in RB1.
FAU - Chen, Chun-Yue
AU  - Chen CY
AD  - Department of Biochemistry and Genetics, National Education Base for Basic 
      Medical Sciences, Institute of Cell Biology, Zhejiang University School of 
      Medicine, Hangzhou, China.
FAU - Xu, Chen-Ming
AU  - Xu CM
FAU - Du, Zhen-Fang
AU  - Du ZF
FAU - Chen, Xiao-Ling
AU  - Chen XL
FAU - Ren, Guo-Liang
AU  - Ren GL
FAU - Zhang, Xian-Ning
AU  - Zhang XN
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Test Mol Biomarkers
JT  - Genetic testing and molecular biomarkers
JID - 101494210
RN  - 0 (Codon)
RN  - 0 (Codon, Nonsense)
RN  - 0 (Retinoblastoma Protein)
SB  - IM
MH  - Asian People/genetics
MH  - Child, Preschool
MH  - China
MH  - Codon/genetics
MH  - *Codon, Nonsense
MH  - Exons
MH  - Female
MH  - Genes, Dominant
MH  - Genetic Testing
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - Retinoblastoma/*genetics/pathology
MH  - Retinoblastoma Protein/*genetics
EDAT- 2010/01/12 06:00
MHDA- 2010/07/30 06:00
CRDT- 2010/01/12 06:00
PHST- 2010/01/12 06:00 [entrez]
PHST- 2010/01/12 06:00 [pubmed]
PHST- 2010/07/30 06:00 [medline]
AID - 10.1089/gtmb.2009.0162 [doi]
PST - ppublish
SO  - Genet Test Mol Biomarkers. 2010 Apr;14(2):193-6. doi: 10.1089/gtmb.2009.0162.