Document Detail

The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
MedLine Citation:
PMID:  23303386     Owner:  NLM     Status:  Publisher    
Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copy of maternally imprinted genes in chromosome region 15q11-13. The genetic subtypes of PWS are classified into deletion (∼70%), maternal uniparental disomy (mUPD; 25-30%), imprinting center defects (3-5%) and rare unbalanced translocations. Recently, Matsubara et al. reported a significantly higher maternal age in a trisomy rescue (TR) or gamete complementation (GC) by nondisjunction at maternal meiosis 1 (M1) group than in a deletion group. In the present study, we try to confirm their findings in an ethnically different population. A total of 97 Korean PWS patients were classified into deletional type (n=66), TR/GC (M1) (n=15), TR/GC by nondisjunction at maternal meiosis 2 (n=2), monosomy rescue or postfertilization mitotic nondisjunction (n=4) and epimutation (n=2). Maternal ages at birth showed a significant difference between the deletion group (median age of 29, interquartile range (IQR)=(27,31)) and the TR/GC (M1) group (median age of 35, IQR=(31,38)) (P<0.0001). The relative birth frequency of the TR/GC (M1) group has substantially increased since 2006 when compared with the period before 2005. These findings support the hypothesis that the advanced maternal age at childbirth is a predisposing factor for the development of mUPD because of increased M1 errors.Journal of Human Genetics advance online publication, 10 January 2013; doi:10.1038/jhg.2012.148.
Sung Yoon Cho; Chang-Seok Ki; Young Bae Sohn; Se Hyun Maeng; You Jin Jung; Su Jin Kim; Dong-Kyu Jin
Related Documents :
23113006 - Prevalence of rotavirus, adenovirus, and astrovirus infections among patients with acut...
20070646 - Comparison of bovine hematology reference intervals from 1957 to 2006.
10438926 - Intracellular rate-limiting steps in mhc class i antigen processing.
23894886 - An autopsy-based study of death due to road traffic accidents in metropolis of karachi.
20010456 - Central serous chorioretinopathy and phosphodiesterase-5 inhibitors: a case-control pos...
2767846 - Multiple myeloma: epidemiological features in a well-defined population in burgundy, fr...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-10
Journal Detail:
Title:  Journal of human genetics     Volume:  -     ISSN:  1435-232X     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Quaternary protein modeling to predict the function of DNA variation found in human mitochondrial cy...
Next Document:  Polymorphisms in regulators of xenobiotic transport and metabolism genes PXR and CAR do not affect m...