Stability of the FMR1 CGG Repeat in a Basque Sample
The fragile X syndrome is an X-chromosome-linked dominant disorder with reduced penetrance. It is the most common inherited form of mental retardation. The molecular basis is usually the unstable expansion of a CGG trinucleotide repeat in the 5' untranslated region of the first exon of the FMR1...
Gespeichert in:
| Veröffentlicht in: | Human biology 1999-02, Vol.71 (1), p.55-68 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 68 |
|---|---|
| container_issue | 1 |
| container_start_page | 55 |
| container_title | Human biology |
| container_volume | 71 |
| creator | ARRIETA, I. GIL, A. NUÑEZ, T. TELEZ, M. MARTINEZ, B. CRIADO, B. LOSTAO, C. |
| description | The fragile X syndrome is an X-chromosome-linked dominant disorder with reduced penetrance. It is the most common inherited form of mental retardation. The molecular basis is usually the unstable expansion of a CGG trinucleotide repeat in the 5' untranslated region of the first exon of the FMR1 gene, which resides at chromosome position Xq27.3 and is coincident with the cytogenetic fragile site FRAXA, which characterizes the syndrome. In the Biscay province of the Basque Country the prevalence of FRAXA in a mentally retarded sample of non-Basque origin is in the range of other analyzed Spanish populations. In the sample of Basque origin we have not found FRAXA site expression and the repeat size is in the normal range. Based on this, we have examined FMR1 gene stability in normal individuals of Basque origin from the Biscay province. This study is based on a sample of 242 X chromosomes. The results from the CGG repeat region of FMR1 indicate that a prevalence of predisposing normal alleles toward repeat instability in the Basque population is 0.00% or near to it. This could be 1 of the explanations of the apparently low fragile X syndrome incidence found in the Basque mentally retarded sample analyzed by us. This low incidence does not seem to be associated with the flanking microsatellite markers. |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_69566918</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A60110836</galeid><jstor_id>41465715</jstor_id><sourcerecordid>A60110836</sourcerecordid><originalsourceid>FETCH-LOGICAL-g376t-8d2bbabf19bd9cc25d3de65f86bfd3967419a918e00c804cba04640758b553663</originalsourceid><addsrcrecordid>eNqN0l9r2zAQAHBTVrKs7UcoiA3KHmKQrP-PWVizQtZC0j4byT67DrKdWTKs374qDSspGRQ9COl-nI7TnSRTwilLhSDyUzLFmKhUEkY_J1-838YjUUpNkonWMsNaTRO6CcY2rglPqK9QeAR0_XtN0GK5RGvYgQmo6ZBBP4z_MwLamHbn4Dw5rYzzcLHfz5KH65_3i1_p6m55s5iv0ppKEVJVZtYaWxFtS10UGS9pCYJXStiqpFpIRrTRRAHGhcKssAYzwbDkynJOhaBnydVr3t3Qx9d9yNvGF-Cc6aAffS40FyImiPDrO7jtx6GLteVZxjjVUrCIvv0PERr7lEklXlLNXlVtHORNV_VhMEUNHQzG9R1UTbyei9hIrOhLiekRHlcJbVMc898PfCQB_obajN7nN5vbj1K1XB3Q2TFa9M5BDXn8lMXdAb_cd2K0LZT5bmhaMzzl-6F4i2996Id_YUaY4DKO1zN2ibVJ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1301827868</pqid></control><display><type>article</type><title>Stability of the FMR1 CGG Repeat in a Basque Sample</title><source>MEDLINE</source><source>Periodicals Index Online</source><source>Jstor Complete Legacy</source><creator>ARRIETA, I. ; GIL, A. ; NUÑEZ, T. ; TELEZ, M. ; MARTINEZ, B. ; CRIADO, B. ; LOSTAO, C.</creator><creatorcontrib>ARRIETA, I. ; GIL, A. ; NUÑEZ, T. ; TELEZ, M. ; MARTINEZ, B. ; CRIADO, B. ; LOSTAO, C.</creatorcontrib><description>The fragile X syndrome is an X-chromosome-linked dominant disorder with reduced penetrance. It is the most common inherited form of mental retardation. The molecular basis is usually the unstable expansion of a CGG trinucleotide repeat in the 5' untranslated region of the first exon of the FMR1 gene, which resides at chromosome position Xq27.3 and is coincident with the cytogenetic fragile site FRAXA, which characterizes the syndrome. In the Biscay province of the Basque Country the prevalence of FRAXA in a mentally retarded sample of non-Basque origin is in the range of other analyzed Spanish populations. In the sample of Basque origin we have not found FRAXA site expression and the repeat size is in the normal range. Based on this, we have examined FMR1 gene stability in normal individuals of Basque origin from the Biscay province. This study is based on a sample of 242 X chromosomes. The results from the CGG repeat region of FMR1 indicate that a prevalence of predisposing normal alleles toward repeat instability in the Basque population is 0.00% or near to it. This could be 1 of the explanations of the apparently low fragile X syndrome incidence found in the Basque mentally retarded sample analyzed by us. This low incidence does not seem to be associated with the flanking microsatellite markers.</description><identifier>ISSN: 0018-7143</identifier><identifier>EISSN: 1534-6617</identifier><identifier>PMID: 9972098</identifier><identifier>CODEN: HUBIAA</identifier><language>eng</language><publisher>United States: Wayne State University Press</publisher><subject>Alleles ; Analysis of Variance ; Basque people ; Chromosome Fragile Sites ; Chromosome Fragility ; Chromosomes ; Female ; Founder effect ; Fragile X Mental Retardation Protein ; Fragile X syndrome ; Fragile X Syndrome - genetics ; Genetic aspects ; Genetic loci ; Genetic mutation ; Genetics ; Haplotypes ; Human biology ; Humans ; Intellectual disabilities ; Intellectual disability ; Intellectual Disability - genetics ; Linkage disequilibrium ; Male ; Mental retardation ; Microsatellite repeats ; Nerve Tissue Proteins - genetics ; Reference Values ; RNA-Binding Proteins ; Selection, Genetic ; Spain ; Trinucleotide Repeats ; X chromosome</subject><ispartof>Human biology, 1999-02, Vol.71 (1), p.55-68</ispartof><rights>Copyright © 1999 Wayne State University Press</rights><rights>COPYRIGHT 1999 Wayne State University Press</rights><rights>Copyright Wayne State University Press Feb 1999</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/41465715$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/41465715$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>314,780,784,803,27869,58017,58250</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9972098$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>ARRIETA, I.</creatorcontrib><creatorcontrib>GIL, A.</creatorcontrib><creatorcontrib>NUÑEZ, T.</creatorcontrib><creatorcontrib>TELEZ, M.</creatorcontrib><creatorcontrib>MARTINEZ, B.</creatorcontrib><creatorcontrib>CRIADO, B.</creatorcontrib><creatorcontrib>LOSTAO, C.</creatorcontrib><title>Stability of the FMR1 CGG Repeat in a Basque Sample</title><title>Human biology</title><addtitle>Hum Biol</addtitle><description>The fragile X syndrome is an X-chromosome-linked dominant disorder with reduced penetrance. It is the most common inherited form of mental retardation. The molecular basis is usually the unstable expansion of a CGG trinucleotide repeat in the 5' untranslated region of the first exon of the FMR1 gene, which resides at chromosome position Xq27.3 and is coincident with the cytogenetic fragile site FRAXA, which characterizes the syndrome. In the Biscay province of the Basque Country the prevalence of FRAXA in a mentally retarded sample of non-Basque origin is in the range of other analyzed Spanish populations. In the sample of Basque origin we have not found FRAXA site expression and the repeat size is in the normal range. Based on this, we have examined FMR1 gene stability in normal individuals of Basque origin from the Biscay province. This study is based on a sample of 242 X chromosomes. The results from the CGG repeat region of FMR1 indicate that a prevalence of predisposing normal alleles toward repeat instability in the Basque population is 0.00% or near to it. This could be 1 of the explanations of the apparently low fragile X syndrome incidence found in the Basque mentally retarded sample analyzed by us. This low incidence does not seem to be associated with the flanking microsatellite markers.</description><subject>Alleles</subject><subject>Analysis of Variance</subject><subject>Basque people</subject><subject>Chromosome Fragile Sites</subject><subject>Chromosome Fragility</subject><subject>Chromosomes</subject><subject>Female</subject><subject>Founder effect</subject><subject>Fragile X Mental Retardation Protein</subject><subject>Fragile X syndrome</subject><subject>Fragile X Syndrome - genetics</subject><subject>Genetic aspects</subject><subject>Genetic loci</subject><subject>Genetic mutation</subject><subject>Genetics</subject><subject>Haplotypes</subject><subject>Human biology</subject><subject>Humans</subject><subject>Intellectual disabilities</subject><subject>Intellectual disability</subject><subject>Intellectual Disability - genetics</subject><subject>Linkage disequilibrium</subject><subject>Male</subject><subject>Mental retardation</subject><subject>Microsatellite repeats</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Reference Values</subject><subject>RNA-Binding Proteins</subject><subject>Selection, Genetic</subject><subject>Spain</subject><subject>Trinucleotide Repeats</subject><subject>X chromosome</subject><issn>0018-7143</issn><issn>1534-6617</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>0R3</sourceid><sourceid>HYQOX</sourceid><sourceid>K30</sourceid><sourceid>~OC</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqN0l9r2zAQAHBTVrKs7UcoiA3KHmKQrP-PWVizQtZC0j4byT67DrKdWTKs374qDSspGRQ9COl-nI7TnSRTwilLhSDyUzLFmKhUEkY_J1-838YjUUpNkonWMsNaTRO6CcY2rglPqK9QeAR0_XtN0GK5RGvYgQmo6ZBBP4z_MwLamHbn4Dw5rYzzcLHfz5KH65_3i1_p6m55s5iv0ppKEVJVZtYaWxFtS10UGS9pCYJXStiqpFpIRrTRRAHGhcKssAYzwbDkynJOhaBnydVr3t3Qx9d9yNvGF-Cc6aAffS40FyImiPDrO7jtx6GLteVZxjjVUrCIvv0PERr7lEklXlLNXlVtHORNV_VhMEUNHQzG9R1UTbyei9hIrOhLiekRHlcJbVMc898PfCQB_obajN7nN5vbj1K1XB3Q2TFa9M5BDXn8lMXdAb_cd2K0LZT5bmhaMzzl-6F4i2996Id_YUaY4DKO1zN2ibVJ</recordid><startdate>19990201</startdate><enddate>19990201</enddate><creator>ARRIETA, I.</creator><creator>GIL, A.</creator><creator>NUÑEZ, T.</creator><creator>TELEZ, M.</creator><creator>MARTINEZ, B.</creator><creator>CRIADO, B.</creator><creator>LOSTAO, C.</creator><general>Wayne State University Press</general><general>Johns Hopkins Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>8GL</scope><scope>ISN</scope><scope>0R3</scope><scope>ABKTN</scope><scope>ANHVI</scope><scope>FYSDU</scope><scope>GHEHK</scope><scope>HYQOX</scope><scope>HZAIM</scope><scope>JRZRW</scope><scope>K30</scope><scope>PAAUG</scope><scope>PAWHS</scope><scope>PAWZZ</scope><scope>PAXOH</scope><scope>PBHAV</scope><scope>PBQSW</scope><scope>PBYQZ</scope><scope>PCIWU</scope><scope>PCMID</scope><scope>PCZJX</scope><scope>PDGRG</scope><scope>PDWWI</scope><scope>PETMR</scope><scope>PFVGT</scope><scope>PGXDX</scope><scope>PIHIL</scope><scope>PISVA</scope><scope>PJCTQ</scope><scope>PJTMS</scope><scope>PLCHJ</scope><scope>PMHAD</scope><scope>PNQDJ</scope><scope>POUND</scope><scope>PPLAD</scope><scope>PQAPC</scope><scope>PQCAN</scope><scope>PQCMW</scope><scope>PQEME</scope><scope>PQHKH</scope><scope>PQMID</scope><scope>PQNCT</scope><scope>PQNET</scope><scope>PQSCT</scope><scope>PQSET</scope><scope>PSVJG</scope><scope>PVMQY</scope><scope>PZGFC</scope><scope>~OC</scope><scope>3V.</scope><scope>4T-</scope><scope>4U-</scope><scope>7QP</scope><scope>7QR</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8AO</scope><scope>8BJ</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FQK</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>JBE</scope><scope>K9-</scope><scope>K9.</scope><scope>LK8</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M2P</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>R05</scope><scope>RC3</scope><scope>S0X</scope><scope>7X8</scope></search><sort><creationdate>19990201</creationdate><title>Stability of the FMR1 CGG Repeat in a Basque Sample</title><author>ARRIETA, I. ; GIL, A. ; NUÑEZ, T. ; TELEZ, M. ; MARTINEZ, B. ; CRIADO, B. ; LOSTAO, C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-g376t-8d2bbabf19bd9cc25d3de65f86bfd3967419a918e00c804cba04640758b553663</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Alleles</topic><topic>Analysis of Variance</topic><topic>Basque people</topic><topic>Chromosome Fragile Sites</topic><topic>Chromosome Fragility</topic><topic>Chromosomes</topic><topic>Female</topic><topic>Founder effect</topic><topic>Fragile X Mental Retardation Protein</topic><topic>Fragile X syndrome</topic><topic>Fragile X Syndrome - genetics</topic><topic>Genetic aspects</topic><topic>Genetic loci</topic><topic>Genetic mutation</topic><topic>Genetics</topic><topic>Haplotypes</topic><topic>Human biology</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Intellectual disability</topic><topic>Intellectual Disability - genetics</topic><topic>Linkage disequilibrium</topic><topic>Male</topic><topic>Mental retardation</topic><topic>Microsatellite repeats</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Reference Values</topic><topic>RNA-Binding Proteins</topic><topic>Selection, Genetic</topic><topic>Spain</topic><topic>Trinucleotide Repeats</topic><topic>X chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>ARRIETA, I.</creatorcontrib><creatorcontrib>GIL, A.</creatorcontrib><creatorcontrib>NUÑEZ, T.</creatorcontrib><creatorcontrib>TELEZ, M.</creatorcontrib><creatorcontrib>MARTINEZ, B.</creatorcontrib><creatorcontrib>CRIADO, B.</creatorcontrib><creatorcontrib>LOSTAO, C.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Gale In Context: High School</collection><collection>Gale In Context: Canada</collection><collection>Periodicals Archive Online Collection 1.2</collection><collection>Periodicals Archive Online JSTOR Titles</collection><collection>Periodicals Archive Online Liberal Arts Collection 1 (2022)</collection><collection>Periodicals Index Online Segment 07</collection><collection>Periodicals Index Online Segment 08</collection><collection>ProQuest Historical Periodicals</collection><collection>Periodicals Index Online Segment 26</collection><collection>Periodicals Index Online Segment 35</collection><collection>Periodicals Index Online</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - West</collection><collection>Primary Sources Access (Plan D) - International</collection><collection>Primary Sources Access & Build (Plan A) - MEA</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - Midwest</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - Northeast</collection><collection>Primary Sources Access (Plan D) - Southeast</collection><collection>Primary Sources Access (Plan D) - North Central</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - Southeast</collection><collection>Primary Sources Access (Plan D) - South Central</collection><collection>Primary Sources Access & Build (Plan A) - UK / I</collection><collection>Primary Sources Access (Plan D) - Canada</collection><collection>Primary Sources Access (Plan D) - EMEALA</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - North Central</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - South Central</collection><collection>Primary Sources Access & Build (Plan A) - International</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - International</collection><collection>Primary Sources Access (Plan D) - West</collection><collection>Periodicals Index Online Segments 1-50</collection><collection>Primary Sources Access (Plan D) - APAC</collection><collection>Primary Sources Access (Plan D) - Midwest</collection><collection>Primary Sources Access (Plan D) - MEA</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - Canada</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - UK / I</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - EMEALA</collection><collection>Primary Sources Access & Build (Plan A) - APAC</collection><collection>Primary Sources Access & Build (Plan A) - Canada</collection><collection>Primary Sources Access & Build (Plan A) - West</collection><collection>Primary Sources Access & Build (Plan A) - EMEALA</collection><collection>Primary Sources Access (Plan D) - Northeast</collection><collection>Primary Sources Access & Build (Plan A) - Midwest</collection><collection>Primary Sources Access & Build (Plan A) - North Central</collection><collection>Primary Sources Access & Build (Plan A) - Northeast</collection><collection>Primary Sources Access & Build (Plan A) - South Central</collection><collection>Primary Sources Access & Build (Plan A) - Southeast</collection><collection>Primary Sources Access (Plan D) - UK / I</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - APAC</collection><collection>Primary Sources Access—Foundation Edition (Plan E) - MEA</collection><collection>Periodicals Archive Online Collection 1</collection><collection>ProQuest Central (Corporate)</collection><collection>Docstoc</collection><collection>University Readers</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest Pharma Collection</collection><collection>International Bibliography of the Social Sciences (IBSS)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>International Bibliography of the Social Sciences</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>International Bibliography of the Social Sciences</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>University of Michigan</collection><collection>Genetics Abstracts</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><jtitle>Human biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>ARRIETA, I.</au><au>GIL, A.</au><au>NUÑEZ, T.</au><au>TELEZ, M.</au><au>MARTINEZ, B.</au><au>CRIADO, B.</au><au>LOSTAO, C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Stability of the FMR1 CGG Repeat in a Basque Sample</atitle><jtitle>Human biology</jtitle><addtitle>Hum Biol</addtitle><date>1999-02-01</date><risdate>1999</risdate><volume>71</volume><issue>1</issue><spage>55</spage><epage>68</epage><pages>55-68</pages><issn>0018-7143</issn><eissn>1534-6617</eissn><coden>HUBIAA</coden><abstract>The fragile X syndrome is an X-chromosome-linked dominant disorder with reduced penetrance. It is the most common inherited form of mental retardation. The molecular basis is usually the unstable expansion of a CGG trinucleotide repeat in the 5' untranslated region of the first exon of the FMR1 gene, which resides at chromosome position Xq27.3 and is coincident with the cytogenetic fragile site FRAXA, which characterizes the syndrome. In the Biscay province of the Basque Country the prevalence of FRAXA in a mentally retarded sample of non-Basque origin is in the range of other analyzed Spanish populations. In the sample of Basque origin we have not found FRAXA site expression and the repeat size is in the normal range. Based on this, we have examined FMR1 gene stability in normal individuals of Basque origin from the Biscay province. This study is based on a sample of 242 X chromosomes. The results from the CGG repeat region of FMR1 indicate that a prevalence of predisposing normal alleles toward repeat instability in the Basque population is 0.00% or near to it. This could be 1 of the explanations of the apparently low fragile X syndrome incidence found in the Basque mentally retarded sample analyzed by us. This low incidence does not seem to be associated with the flanking microsatellite markers.</abstract><cop>United States</cop><pub>Wayne State University Press</pub><pmid>9972098</pmid><tpages>14</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0018-7143 |
| ispartof | Human biology, 1999-02, Vol.71 (1), p.55-68 |
| issn | 0018-7143 1534-6617 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69566918 |
| source | MEDLINE; Periodicals Index Online; Jstor Complete Legacy |
| subjects | Alleles Analysis of Variance Basque people Chromosome Fragile Sites Chromosome Fragility Chromosomes Female Founder effect Fragile X Mental Retardation Protein Fragile X syndrome Fragile X Syndrome - genetics Genetic aspects Genetic loci Genetic mutation Genetics Haplotypes Human biology Humans Intellectual disabilities Intellectual disability Intellectual Disability - genetics Linkage disequilibrium Male Mental retardation Microsatellite repeats Nerve Tissue Proteins - genetics Reference Values RNA-Binding Proteins Selection, Genetic Spain Trinucleotide Repeats X chromosome |
| title | Stability of the FMR1 CGG Repeat in a Basque Sample |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-20T10%3A43%3A19IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Stability%20of%20the%20FMR1%20CGG%20Repeat%20in%20a%20Basque%20Sample&rft.jtitle=Human%20biology&rft.au=ARRIETA,%20I.&rft.date=1999-02-01&rft.volume=71&rft.issue=1&rft.spage=55&rft.epage=68&rft.pages=55-68&rft.issn=0018-7143&rft.eissn=1534-6617&rft.coden=HUBIAA&rft_id=info:doi/&rft_dat=%3Cgale_proqu%3EA60110836%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1301827868&rft_id=info:pmid/9972098&rft_galeid=A60110836&rft_jstor_id=41465715&rfr_iscdi=true |