Frequency and stability of the fragile X premutation.


:Although considered the most common heritable cause of neurodevelopmental disability, precise prevalence figures for the FMR1 mutation in the general population are lacking. Since no fragile X premutation alleles have yet been observed to originate from FMR1 alleles within the normal size range, there is also little information available about the origin of the fragile X premutation and mechanisms leading to instability of the FMR1 trinucleotide repeat region. In this study, 977 genetically unrelated individuals from families unselected for mental retardation or fragile X were analyzed with Southern blot analysis for the presence of FMR1 mutations. A subgroup of subjects with evidence of a large CGG repeat number, and any available relatives, were further studied with PCR to investigate the stability of the trinucleotide repeat segment of FMR1. One subject had a 75 repeat length which was unstable (increased in size) when passed to subsequent generations. This includes one male descendent who had a premutation/full mutation mosaic pattern. Two other alleles with > or = 46 repeats from different subjects were also found to be unstable and increased in size in subsequent generations. Considering all three unstable alleles to be indicative of an evolving or actual premutation, the estimated frequency of the fragile X premutation is one in 510 X chromosomes. However, since 11 other alleles with > or = 46 repeats were found to be stable through at least one meiotic transmission, repeat length appears to be an important but not sufficient condition leading to instability of the FMR1 gene.


Hum Mol Genet


Human molecular genetics


Reiss AL,Kazazian HH Jr,Krebs CM,McAughan A,Boehm CD,Abrams MT,Nelson DL




Has Abstract


1994-03-01 00:00:00












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    abstract::DiGeorge syndrome is a human developmental disorder resulting in hypoplasia of the thymus and parathyroids, and conotruncal heart defects. We recently isolated four genes with zinc finger DNA binding motifs mapping to chromosome 22q11.2 DiGeorge critical region. We now report that one of them, ZNF74 gene, is hemizygou...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Aubry M,Demczuk S,Desmaze C,Aikem M,Aurias A,Julien JP,Rouleau GA

    更新日期:1993-10-01 00:00:00

  • Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Thomasson R,Vignier N,Peccate C,Mougenot N,Noirez P,Muchir A

    更新日期:2019-07-01 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Kulkarni M,Trifunović D,Schubert T,Euler T,Paquet-Durand F

    更新日期:2016-09-01 00:00:00

  • MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Delia D,Piane M,Buscemi G,Savio C,Palmeri S,Lulli P,Carlessi L,Fontanella E,Chessa L

    更新日期:2004-09-15 00:00:00

  • A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Pan L,Zhang L,Zhang W,Wu X,Li Y,Yan B,Zhu X,Liu X,Yang C,Xu J,Zhou G,Xu A,Li H,Liu Y

    更新日期:2014-04-15 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Di Pardo A,Amico E,Favellato M,Castrataro R,Fucile S,Squitieri F,Maglione V

    更新日期:2014-05-01 00:00:00

  • Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Akman HO,Dorado B,López LC,García-Cazorla A,Vilà MR,Tanabe LM,Dauer WT,Bonilla E,Tanji K,Hirano M

    更新日期:2008-08-15 00:00:00

  • Parkinson's disease-linked DNAJC13 mutation aggravates alpha-synuclein-induced neurotoxicity through perturbation of endosomal trafficking.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Yoshida S,Hasegawa T,Suzuki M,Sugeno N,Kobayashi J,Ueyama M,Fukuda M,Ido-Fujibayashi A,Sekiguchi K,Ezura M,Kikuchi A,Baba T,Takeda A,Mochizuki H,Nagai Y,Aoki M

    更新日期:2018-03-01 00:00:00

  • A role for Brca1 in chromosome end maintenance.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: McPherson JP,Hande MP,Poonepalli A,Lemmers B,Zablocki E,Migon E,Shehabeldin A,Porras A,Karaskova J,Vukovic B,Squire J,Hakem R

    更新日期:2006-03-15 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Sha D,Chin LS,Li L

    更新日期:2010-01-15 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Raggi C,Luciani A,Nevo N,Antignac C,Terryn S,Devuyst O

    更新日期:2014-05-01 00:00:00

  • Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Schwarz N,Novoselova TV,Wait R,Hardcastle AJ,Cheetham ME

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Feng W,Rosca M,Fan Y,Hu Y,Feng P,Lee HG,Monnier VM,Fan X

    更新日期:2017-04-01 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Johnson EB,Hammer RE,Herz J

    更新日期:2005-11-15 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Wang HQ,Nakaya Y,Du Z,Yamane T,Shirane M,Kudo T,Takeda M,Takebayashi K,Noda Y,Nakayama KI,Nishimura M

    更新日期:2005-07-01 00:00:00

  • Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Forsman K,Lind L,Bäckman B,Westermark E,Holmgren G

    更新日期:1994-09-01 00:00:00

  • Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Grimm C,Spörle R,Schmid TE,Adler ID,Adamski J,Schughart K,Graw J

    更新日期:1999-04-01 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Mahadevan MS,Amemiya C,Jansen G,Sabourin L,Baird S,Neville CE,Wormskamp N,Segers B,Batzer M,Lamerdin J

    更新日期:1993-03-01 00:00:00

  • Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Noack R,Frede S,Albrecht P,Henke N,Pfeiffer A,Knoll K,Dehmel T,Meyer Zu Hörste G,Stettner M,Kieseier BC,Summer H,Golz S,Kochanski A,Wiedau-Pazos M,Arnold S,Lewerenz J,Methner A

    更新日期:2012-01-01 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Wu YP,Mizugishi K,Bektas M,Sandhoff R,Proia RL

    更新日期:2008-08-01 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Buresi C,Desmarais E,Vigneron S,Lamarti H,Smaoui N,Cambien F,Roizes G

    更新日期:1996-01-01 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Shelkovnikova TA,Robinson HK,Troakes C,Ninkina N,Buchman VL

    更新日期:2014-05-01 00:00:00

  • Familial non-specific dementia maps to chromosome 3.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Brown J,Ashworth A,Gydesen S,Sorensen A,Rossor M,Hardy J,Collinge J

    更新日期:1995-09-01 00:00:00

  • Common haplotypes in five genes influence genetic variance of LDL and HDL cholesterol in the general population.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Knoblauch H,Bauerfeind A,Krähenbühl C,Daury A,Rohde K,Bejanin S,Essioux L,Schuster H,Luft FC,Reich JG

    更新日期:2002-06-01 00:00:00

  • Initiation of the breakage-fusion-bridge mechanism through common fragile site activation in human breast cancer cells: the model of PIP gene duplication from a break at FRA7I.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Ciullo M,Debily MA,Rozier L,Autiero M,Billault A,Mayau V,El Marhomy S,Guardiola J,Bernheim A,Coullin P,Piatier-Tonneau D,Debatisse M

    更新日期:2002-11-01 00:00:00

  • Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene.

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Davy BE,Robinson ML

    更新日期:2003-05-15 00:00:00

  • Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios.

    abstract::Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring trios from the Norwegian Mother, Father and Child Cohort Study to optimize runs of homozygosity (RO...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Sole-Navais P,Bacelis J,Helgeland Ø,Modzelewska D,Vaudel M,Flatley C,Andreassen O,Njølstad PR,Muglia LJ,Johansson S,Zhang G,Jacobsson B

    更新日期:2020-12-08 00:00:00

  • Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.

    abstract::The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Suzuki Y,Pasch A,Bonny O,Mohaupt MG,Hediger MA,Frey FJ

    更新日期:2008-06-01 00:00:00