Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

Dombrowski, C.

doi:10.1093/hmg/11.4.371

Cited by 289Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative DiseasesGenomics and Rare Diseases

Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

Dombrowski, C.·2002·Human Molecular Genetics

DOI 10.1093/hmg/11.4.371

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Abstract

We previously reported a 1:259 prevalence of female carriers of FMR1 premutation-size alleles (greater than 54 triplet repeats) in the general population. We now have screened 10 572 independent males from the same population for similar alleles using high-throughput Southern blotting. We identified 13 male carriers of an allele with more than 54 repeats. This corresponds to a prevalence of 1:813 males (95% confidence interval 1:527 to 1:1781). Haplotype analysis of four markers flanking the triplet array revealed that the prevalence of the major fragile X mutation-associated haplotype was increased among FMR1 alleles of 40-54 repeats. Although sequencing of highly unstable premutation alleles from fragile X families revealed only pure CGG tracts, this was not the case for alleles of similar size that were identified in males from the general population. Forty-eight out of forty-nine alleles of 40 or more triplets had one or two AGG interruptions. This observation, combined with the observation of the enrichment of major fragile X syndrome haplotypes in all alleles of this size, is evidence that the loss of an AGG interruption in the triplet repeat array is not necessary for expansion of normal alleles of 29-30 triplets to intermediate size. The loss of AGG interruptions thus appears to be a late event that leads to greatly increased instability and may be related to the haplotype background of specific FMR1 alleles.

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Premutation prevalence differs across ethnic groups, being higher in people of mixed European descent than in African American and Hispanic people, and is higher than in previous studies.
“PM prevalence was found to be different in various ethnic groups; it was higher in people of mixed European descent compared with that in African American and Hispanic people (for both males and females) and shows a higher incidence for PM compared with that in previous studies (34,35).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [35]

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Self-citation
Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions
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Authors: Dombrowski, C.
Affiliations: Hôpital Saint-François d'Assise (CA)
Corresponding author: Dombrowski, C.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2002-02-01
Volume: 11
Issue: 4
Pages: 371-378
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/11.4.371
OpenAlex: W2166567981
Cited by: 289
References: 41
Citations by year: 2026: 1 · 2025: 1 · 2024: 5 · 2023: 5 · 2022: 4 · 2021: 8 · 2020: 5 · 2019: 7 · 2018: 9 · 2017: 7 · 2016: 8 · 2015: 5 · 2014: 15 · 2013: 18 · 2012: 18
FWCI: 10.08
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: fragile X syndrome, fragile X premutation, AGG interruptions, male carriers, haplotype analysis, repeat instability
MeSH terms: Fragile X Syndrome, Gene Frequency, Haplotypes, Heterozygote, Humans, Male, Nerve Tissue Proteins, Quebec, Prevalence, RNA-Binding Proteins, Trinucleotide Repeats, Fragile X Messenger Ribonucleoprotein 1

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Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

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