Document Detail

Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos.
MedLine Citation:
PMID:  16391559     Owner:  NLM     Status:  MEDLINE    
One form of myotonic dystrophy, dystrophia myotonica 1 (DM1), is caused by the expansion of a (CTG)(n) repeat within the dystrophia myotonica-protein kinase (DMPK) gene located in chromosome region 19q13.3. Unaffected individuals carry alleles with repeat size (CTG)(5-37), premutation carriers (CTG)(38-49) and DM1 affected individuals (CTG)(50-6,000). Preferential transmission both of expanded repeats from DM1-affected parents and larger DMPK alleles in the normal-size range have been reported in live-born offspring. To determine the moment in development when transmission ratio distortion (TRD) for larger normal-size DMPK alleles is generated, the transmission from heterozygous parents with one repeat within the (CTG)(5-18) range (Group I repeat) and the other within the (CTG)(19-37) range (Group II repeat) to human preimplantation embryos was analysed. A statistically significant TRD of 59% (95% confidence interval of 54-64) in favour of Group II repeats from both mothers and fathers was observed in preimplantation embryos, which remained significant when female embryos were considered separately. In contrast, no significant TRD was detected for repeats from informative Group I/Group I parents. Our analysis showed that Group II repeats specifically were preferentially transmitted in human preimplantation embryos. We suggest that TRD, in Group II repeats at the DMPK locus, is likely to result from events occurring at or around the time of fertilisation.
Nicola L Dean; J Concepción Loredo-Osti; T Mary Fujiwara; Kenneth Morgan; Seang Lin Tan; Anna K Naumova; Asangla Ao
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  14     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-02-22     Completed Date:  2006-05-25     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  299-306     Citation Subset:  IM    
Department of Obstetrics and Gynecology, McGill University, Montreal, Quebec, Canada.
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MeSH Terms
Chromosome Mapping
Chromosomes, Human, Pair 19
Embryo, Mammalian / metabolism
Fertilization in Vitro
Gene Frequency
Myotonic Dystrophy / genetics*
Protein-Serine-Threonine Kinases / genetics
Repetitive Sequences, Nucleic Acid
Spermatozoa / metabolism
Trinucleotide Repeat Expansion
Reg. No./Substance:
EC 2.7.1.-/myotonic dystrophy protein kinase; EC Kinases

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

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