Document Detail

Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole.
MedLine Citation:
PMID:  16239310     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Familial recurrent hydatidiform mole is an extremely rare autosomal recessive condition in which affected individuals have a predisposition to molar pregnancies that are diploid but biparental, rather than androgenetic, in origin. A gene for this condition has been previously mapped to a 1.1 Mb region of chromosome 19q13.4. However, investigation of further families is needed to refine the location of the specific gene(s) involved. METHODS: We have recently identified two novel Chinese families in which four affected women had recurrent pregnancy loss including 14 complete hydatidiform moles (CHM). Fluorescent microsatellite genotyping was used to determine the origin of CHM in both families. Using a panel of polymorphic microsatellite markers, genotyping and haplotype analysis of the 19q13.4 chromosomal region was performed in both families. RESULTS: Genotyping of CHM from affected individuals confirmed their biparental origin and diagnosis of familial recurrent hydatidiform mole in both families. However, no significant homozygosity for the 19q13.4 candidate region was found in affected members of either family. CONCLUSION: Genotyping and haplotype analysis has shown that a mutation in 19q13.4 is unlikely to be responsible for recurrent CHM in the two Chinese families investigated and provides further evidence to support the hypothesis that, although extremely rare, this condition shows genetic heterogeneity.
J Zhao; J Moss; N J Sebire; Q C Cui; M J Seckl; Y Xiang; R A Fisher
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-10-20
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  21     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2006 Feb 
Date Detail:
Created Date:  2006-01-20     Completed Date:  2006-03-08     Revised Date:  2007-08-13    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  536-41     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
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MeSH Terms
Chorionic Villi / pathology
Chromosomes, Human, Pair 19 / genetics*
Cytogenetic Analysis
Genetic Heterogeneity
Hydatidiform Mole / genetics*,  pathology
Microsatellite Repeats
Neoplasm Recurrence, Local / genetics*,  pathology
Uterine Neoplasms / genetics*,  pathology
Grant Support
//Wellcome Trust

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