PMID- 19083838
OWN - NLM
STAT- MEDLINE
DCOM- 20090514
LR  - 20131121
IS  - 1878-0326 (Electronic)
IS  - 1872-4973 (Linking)
VI  - 2
IP  - 4
DP  - 2008 Sep
TI  - Parentally imprinted allele (PIA) typing in the differentially methylated region 
      upstream of the human H19 gene.
PG  - 286-91
LID - 10.1016/j.fsigen.2008.03.008 [doi]
AB  - The H19 gene is a paternally imprinted gene located on chromosome 11p15.5. In 
      this study, the H19FR1 and H19FR2 haplotype polymorphisms including four and 
      three SNPs, respectively, upstream of the H19 gene according to the GenBank 
      sequence (accession no. AF125183) were investigated. Five haplotypes and nine 
      genotypes were detected for H19FR1 in the Chinese Han population by means of PCR 
      and subsequent denaturing gradient gel electrophoresis (DGGE). The power of 
      discrimination (Dp), polymorphism information content (PIC) and probability of 
      paternity exclusion (PE) were estimated to be 0.803, 0.58 and 0.322, 
      respectively. For the H19FR2, two haplotypes and three genotyes were observed, 
      and the Dp, PIC and PE were 0.626, 0.37 and 0.162, respectively. Sequencing 
      results showed that only two of the four reported SNPs, a7342g and g7547a, were 
      detected in H19FR1 in the Chinese Han population, and two new SNPs, g7351c and 
      a7357g, were found. In the H19FR2 region, only one of the three reported SNPs, 
      a8097g, was detected. Based on the methylation status of the genomic DNA, 
      selective detection of the parental alleles for H19FRs was examined by using two 
      types of enzymes, the methylation-sensitive restriction enzyme (msRE) HpaII or 
      HhaI and McrBC. Genomic DNA digested by either HpaII or HhaI, revealed a single 
      band derived from the paternal allele, as a result of cleavage of unmethylated 
      recognition sites on the maternal allele. On the contrary, the use of McrBC, 
      which can digest a methylated paternal sequence, resulted in exclusively 
      amplifying the maternal allele. This parentally imprinted allele (PIA) typing 
      method could be one of the useful techniques for discriminating the parental 
      origin of alleles.
FAU - Huang, Daixin
AU  - Huang D
AD  - Faculty of Forensic Medicine, Tongji Medical College, Huazhong University of 
      Science and Technology, Wuhan, PR China. huangdaixin@hotmail.com
FAU - Lin, Xiaoyan
AU  - Lin X
FAU - Chen, Hui
AU  - Chen H
FAU - Yang, Qingen
AU  - Yang Q
FAU - Jie, Ya
AU  - Jie Y
FAU - Zhai, Xiandun
AU  - Zhai X
FAU - Yin, Hui
AU  - Yin H
LA  - eng
PT  - Journal Article
DEP - 20080508
PL  - Netherlands
TA  - Forensic Sci Int Genet
JT  - Forensic science international. Genetics
JID - 101317016
RN  - 0 (DNA Primers)
RN  - 0 (H19 long non-coding RNA)
RN  - 0 (RNA, Long Noncoding)
RN  - 0 (RNA, Untranslated)
SB  - IM
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - DNA Primers
MH  - Forensic Genetics/*methods
MH  - *Genomic Imprinting
MH  - Genotype
MH  - Haplotypes/genetics
MH  - Humans
MH  - Microsatellite Repeats/genetics
MH  - Minisatellite Repeats/genetics
MH  - Parents
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Genetic
MH  - Polymorphism, Single Nucleotide
MH  - RNA, Long Noncoding
MH  - RNA, Untranslated/*genetics/isolation & purification
EDAT- 2008/12/17 09:00
MHDA- 2009/05/15 09:00
CRDT- 2008/12/17 09:00
PHST- 2007/09/30 00:00 [received]
PHST- 2008/03/12 00:00 [revised]
PHST- 2008/03/27 00:00 [accepted]
PHST- 2008/12/17 09:00 [entrez]
PHST- 2008/12/17 09:00 [pubmed]
PHST- 2009/05/15 09:00 [medline]
AID - S1872-4973(08)00047-1 [pii]
AID - 10.1016/j.fsigen.2008.03.008 [doi]
PST - ppublish
SO  - Forensic Sci Int Genet. 2008 Sep;2(4):286-91. doi: 10.1016/j.fsigen.2008.03.008. 
      Epub 2008 May 8.