Document Detail

The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis.
MedLine Citation:
PMID:  7989507     Owner:  NLM     Status:  MEDLINE    
We studied the methylation status of the CpG island of the FMR-1 (fragile X syndrome) gene to recognize the possibility of its prenatal diagnosis with early pregnant subjects. Southern hybridization using EcoRI/BssHII restriction enzymes double digestion was performed in the brain and chorionic villi of 8th week embryos, and the placenta and cord blood of newborns. No methylation of the FMR-1 gene occurred in both of the tissues examined in males, while 50% of the cells in females were methylated in both the brain and the cord blood, indicating that methylation occurs with inactivation of the X-chromosome in accordance with the literature. However, there was no methylation in either the chorionic villi or placenta in female as well as in males. Some extra-embryonic tissues such as the chorionic villi and the placenta escape X-chromosome FMR-1 gene inactivation and it can be the exception in the lyonization. To assess the methylation status in prenatal diagnosis, precautions are needed and they are not suitable for prenatal diagnosis.
T Iida; Y Nakahori; O Tsutsumi; Y Taketani; Y Nakagome
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  9     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  1994 Aug 
Date Detail:
Created Date:  1995-01-12     Completed Date:  1995-01-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1471-3     Citation Subset:  IM    
Department of Obstetrics and Gynaecology, Faculty of Medicine, University of Tokyo, Japan.
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MeSH Terms
Blotting, Southern
Brain / embryology,  metabolism
Chorionic Villi / metabolism
DNA / analysis,  metabolism*
Dinucleoside Phosphates / metabolism*
Fetal Blood / metabolism
Fetus / metabolism*
Fragile X Syndrome / diagnosis,  genetics*
Placenta / metabolism
Prenatal Diagnosis*
Sex Characteristics
Reg. No./Substance:
0/Dinucleoside Phosphates; 2382-65-2/cytidylyl-3'-5'-guanosine; 9007-49-2/DNA

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