PMID- 17591941
OWN - NLM
STAT- MEDLINE
DCOM- 20070919
LR  - 20240414
IS  - 1525-1578 (Print)
IS  - 1525-1578 (Linking)
VI  - 9
IP  - 3
DP  - 2007 Jul
TI  - Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and 
      TBL1Y: implications for sex chromosome analysis and bone marrow engraftment 
      analysis.
PG  - 408-13
AB  - Amelogenin has chromosome X (AMELX) and Y (AMELY) homologs that can be 
      differentiated based on the length of polymerase chain reaction (PCR) 
      amplification products. In addition to being useful for gender identification, 
      analysis of amelogenin has utility for monitoring bone marrow engraftment in 
      patients after a sex-mismatched bone marrow transplant, characterizing sex 
      chromosome abnormalities, and for forensic purposes for analyzing mixtures of 
      male and female DNA. Here, we describe two brothers in which PCR analysis 
      demonstrated twofold greater AMELY products compared with AMELX products. 
      Karyotype and X/Y fluorescence in situ hybridization analysis demonstrated a 
      single copy of the X and Y chromosomes without any identifiable abnormalities. 
      Oligonucleotide comparative genomic hybridization array analysis demonstrated a 
      duplication of a portion of chromosome Yp that encompassed a region of at least 
      2.6 Mb but not greater than 4.0 Mb. The amplified region contains the genes 
      AMELY, transducin (beta)-like 1 protein Y (TBL1Y), and protein kinase Y (PRKY). 
      To our knowledge, duplication of this region has not previously been reported. 
      The family history is unremarkable, and the brothers are without ap-parent 
      dysmorphic features. Although this and other genetic variants involving AMELY are 
      uncommon, one should use caution when using amelogenin for sex chromosome 
      analysis and bone marrow engraftment analysis.
FAU - Murphy, Kathleen M
AU  - Murphy KM
AD  - Department of Pathology, John Hopkins Medical Institutions, Baltimore, MD, USA. 
      kmurphy4@jhmi.edu
FAU - Cohen, Julie S
AU  - Cohen JS
FAU - Goodrich, Amy
AU  - Goodrich A
FAU - Long, Patricia P
AU  - Long PP
FAU - Griffin, Constance A
AU  - Griffin CA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
RN  - 0 (AMELY protein, human)
RN  - 0 (Amelogenin)
RN  - 0 (TBL1Y protein, human)
RN  - EC 2.7.1.- (PRKY protein, human)
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
RN  - EC 3.6.5.1 (Transducin)
SB  - IM
MH  - Adult
MH  - Amelogenin/analysis/*genetics
MH  - *Bone Marrow Transplantation
MH  - *Chromosomes, Human, Y
MH  - DNA Mutational Analysis/*methods
MH  - Directed Tissue Donation
MH  - *Gene Duplication
MH  - Humans
MH  - Lymphoma, B-Cell/genetics/therapy
MH  - Lymphoma, Large B-Cell, Diffuse/genetics/therapy
MH  - Male
MH  - Protein Serine-Threonine Kinases/*genetics
MH  - *Sex Chromosome Aberrations
MH  - Siblings
MH  - Transducin/*genetics
PMC - PMC1899418
EDAT- 2007/06/27 09:00
MHDA- 2007/09/20 09:00
PMCR- 2008/07/01
CRDT- 2007/06/27 09:00
PHST- 2007/06/27 09:00 [pubmed]
PHST- 2007/09/20 09:00 [medline]
PHST- 2007/06/27 09:00 [entrez]
PHST- 2008/07/01 00:00 [pmc-release]
AID - S1525-1578(10)60410-2 [pii]
AID - 06-0198 [pii]
AID - 10.2353/jmoldx.2007.060198 [doi]
PST - ppublish
SO  - J Mol Diagn. 2007 Jul;9(3):408-13. doi: 10.2353/jmoldx.2007.060198.