Document Detail


Increased transmission of intermediate alleles of the FMR1 gene compared with normal alleles among female heterozygotes.
MedLine Citation:
PMID:  10869119     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fragile X syndrome (Fra X) is the most common heritable disease accounting for mental retardation and is caused by an expanded CGG repeat in the first exon of the FMR1gene. Previous studies have shown an increased fertility rate among fragile X carrier mothers and a preponderance of mentally retarded boys among the male offspring. In this study, we examined the transmission of the intermediate allele in the lower range of CGG repeats in carrier mothers found randomly in a screening program of the normal population. We tested 10,587 healthy women with no family history of mental retardation and identified 138 (1.3%) who were carriers of the intermediate allele (51-200 CGG repeats). Of these, 107 underwent prenatal testing during 108 pregnancies for Fra X in the fetus. Of the 108 pregnancies, the abnormal allele was transmitted in 67 (segregation ratio = 0.62, P < 0.012). We found a significant increase in the transmission of the abnormal allele by mothers who had between 51 and 60 repeats (segregation ratio = 0.69 [P < 0.007] for the group with 51-55 repeats, and 0.74 [P < 0.04] for the group with 56-60 repeats), but no increase by mothers who had more than 61 repeats. This suggests a genetic advantage for the abnormal allele in the 51- to 60-repeat range.
Authors:
V Drasinover; S Ehrlich; N Magal; E Taub; V Libman; T Shohat; G J Halpern; M Shohat
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  93     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2000 Jul 
Date Detail:
Created Date:  2000-07-14     Completed Date:  2000-07-14     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  155-7     Citation Subset:  IM    
Copyright Information:
Copyright 2000 Wiley-Liss, Inc.
Affiliation:
Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
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MeSH Terms
Descriptor/Qualifier:
Alleles*
Female
Fetus / metabolism
Fragile X Mental Retardation Protein
Fragile X Syndrome / diagnosis,  genetics
Genetic Testing
Heterozygote*
Humans
Nerve Tissue Proteins / genetics*
Pregnancy
Prenatal Diagnosis
RNA-Binding Proteins*
Trinucleotide Repeat Expansion
Trinucleotide Repeats
Chemical
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein

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


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