Haplotype and AGG Interspersion Analysis of FMR1 Alleles in a Croatian Population: No Founder Effect Detected in Patients with Fragile X Syndrome
Several studies have suggested that fragile X syndrome (FRAXA), the most common inherited form of mental retardation, originated from a limited number of founder chromosomes. The aim of this study is to assess the genetic origin of fragile X syndrome in a Croatian population. We performed a haplotyp...
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| Veröffentlicht in: | Human biology 2008-10, Vol.80 (5), p.581-587 |
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| creator | Dokic, H Barisic, I Culic, V Lozic, B Hecimovic, S |
| description | Several studies have suggested that fragile X syndrome (FRAXA), the most common inherited form of mental retardation, originated from a limited number of founder chromosomes. The aim of this study is to assess the genetic origin of fragile X syndrome in a Croatian population. We performed a haplotype analysis of the polymorphic loci DXS548 and FRAXAC1 in 18 unrelated fragile X and 56 control chromosomes. The AGG interspersion pattern of the FMR1 CGG repeat region was analyzed by sequencing. This is the first report on haplotype and AGG interspersion analysis of the fragile X syndrome gene in a Croatian population—the only eastern European population of Slavic origin analyzed so far. Our findings are intriguing, because they show a distinct distribution of the DXS548 and FRAXAC1 alleles in our fragile X population compared to other European fragile X populations. The DXS548/FRAXAC1 haplotype 194/154 (7–3), which is common among normal populations, was found to be the most frequent haplotype in our fragile X population as well. The AGG interspersion analysis indicated that AGG loss rather than haplotype may determine FMR1 allele instability. Our results suggest that no common ancestral X chromosome is associated with fragile X syndrome in the Croatian population studied. Further analysis of the origin of fragile X syndrome among other Slavic populations will be necessary to better define its eastern European distribution. |
| doi_str_mv | 10.3378/1534-6617-80.5.581 |
| format | Article |
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The aim of this study is to assess the genetic origin of fragile X syndrome in a Croatian population. We performed a haplotype analysis of the polymorphic loci DXS548 and FRAXAC1 in 18 unrelated fragile X and 56 control chromosomes. The AGG interspersion pattern of the FMR1 CGG repeat region was analyzed by sequencing. This is the first report on haplotype and AGG interspersion analysis of the fragile X syndrome gene in a Croatian population—the only eastern European population of Slavic origin analyzed so far. Our findings are intriguing, because they show a distinct distribution of the DXS548 and FRAXAC1 alleles in our fragile X population compared to other European fragile X populations. The DXS548/FRAXAC1 haplotype 194/154 (7–3), which is common among normal populations, was found to be the most frequent haplotype in our fragile X population as well. The AGG interspersion analysis indicated that AGG loss rather than haplotype may determine FMR1 allele instability. Our results suggest that no common ancestral X chromosome is associated with fragile X syndrome in the Croatian population studied. Further analysis of the origin of fragile X syndrome among other Slavic populations will be necessary to better define its eastern European distribution.</description><identifier>ISSN: 0018-7143</identifier><identifier>ISSN: 1534-6617</identifier><identifier>EISSN: 1534-6617</identifier><identifier>DOI: 10.3378/1534-6617-80.5.581</identifier><identifier>PMID: 19341325</identifier><identifier>CODEN: HUBIAA</identifier><language>eng</language><publisher>United States: Wayne State University Press</publisher><subject>Alleles ; Biological anthropology ; Brief Communications ; Case-Control Studies ; CGG repeats ; Chromosomes ; Croatia ; DXS548 ; FMR1 ; Fragile X Mental Retardation Protein - genetics ; Fragile X Syndrome ; Fragile X Syndrome - genetics ; FRAXA ; FRAXAC1 ; Gene Frequency ; Genetic Markers ; Genetic testing ; Genetics, Population - statistics & numerical data ; Genotype ; haplotype ; Haplotypes - genetics ; Human biology ; Human genetics ; Humans ; linkage ; Male ; Mental retardation ; Microsatellite Repeats - genetics ; Mutation ; Population ; Population dynamics ; Sample size ; Slavic studies ; Statistical methods</subject><ispartof>Human biology, 2008-10, Vol.80 (5), p.581-587</ispartof><rights>2008 Wayne State University Press</rights><rights>Copyright © 2008 The Wayne State University Press.</rights><rights>Copyright Wayne State University Press Oct 2008</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b509t-d9311fed15a3ee6747cf3dd02eb3c7a87b489738e5e1ea4dae89a519de7847163</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://bioone.org/doi/pdf/10.3378/1534-6617-80.5.581$$EPDF$$P50$$Gbioone$$H</linktopdf><link.rule.ids>314,776,780,26955,27901,27902,52338</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19341325$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dokic, H</creatorcontrib><creatorcontrib>Barisic, I</creatorcontrib><creatorcontrib>Culic, V</creatorcontrib><creatorcontrib>Lozic, B</creatorcontrib><creatorcontrib>Hecimovic, S</creatorcontrib><title>Haplotype and AGG Interspersion Analysis of FMR1 Alleles in a Croatian Population: No Founder Effect Detected in Patients with Fragile X Syndrome</title><title>Human biology</title><addtitle>Hum Biol</addtitle><description>Several studies have suggested that fragile X syndrome (FRAXA), the most common inherited form of mental retardation, originated from a limited number of founder chromosomes. The aim of this study is to assess the genetic origin of fragile X syndrome in a Croatian population. We performed a haplotype analysis of the polymorphic loci DXS548 and FRAXAC1 in 18 unrelated fragile X and 56 control chromosomes. The AGG interspersion pattern of the FMR1 CGG repeat region was analyzed by sequencing. This is the first report on haplotype and AGG interspersion analysis of the fragile X syndrome gene in a Croatian population—the only eastern European population of Slavic origin analyzed so far. Our findings are intriguing, because they show a distinct distribution of the DXS548 and FRAXAC1 alleles in our fragile X population compared to other European fragile X populations. The DXS548/FRAXAC1 haplotype 194/154 (7–3), which is common among normal populations, was found to be the most frequent haplotype in our fragile X population as well. The AGG interspersion analysis indicated that AGG loss rather than haplotype may determine FMR1 allele instability. Our results suggest that no common ancestral X chromosome is associated with fragile X syndrome in the Croatian population studied. Further analysis of the origin of fragile X syndrome among other Slavic populations will be necessary to better define its eastern European distribution.</description><subject>Alleles</subject><subject>Biological anthropology</subject><subject>Brief Communications</subject><subject>Case-Control Studies</subject><subject>CGG repeats</subject><subject>Chromosomes</subject><subject>Croatia</subject><subject>DXS548</subject><subject>FMR1</subject><subject>Fragile X Mental Retardation Protein - genetics</subject><subject>Fragile X Syndrome</subject><subject>Fragile X Syndrome - genetics</subject><subject>FRAXA</subject><subject>FRAXAC1</subject><subject>Gene Frequency</subject><subject>Genetic Markers</subject><subject>Genetic testing</subject><subject>Genetics, Population - statistics & numerical data</subject><subject>Genotype</subject><subject>haplotype</subject><subject>Haplotypes - genetics</subject><subject>Human biology</subject><subject>Human genetics</subject><subject>Humans</subject><subject>linkage</subject><subject>Male</subject><subject>Mental retardation</subject><subject>Microsatellite Repeats - genetics</subject><subject>Mutation</subject><subject>Population</subject><subject>Population dynamics</subject><subject>Sample size</subject><subject>Slavic studies</subject><subject>Statistical methods</subject><issn>0018-7143</issn><issn>1534-6617</issn><issn>1534-6617</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqNksFu1DAURSMEotPCD7BAFgtYZbBjO3bYjYbOtFKBioLEznLiF8jIsVM7EZrP6B_jaEYFsYAurGdb597nJ98se0HwklIh3xJOWV6WROQSL_mSS_IoW9xfPs4WGBOZC8LoSXYa4y4diZTyaXZCKsoILfgiu7vQg_XjfgCknUGr7RZduhFCHNLqvEMrp-0-dhH5Fm0-fCZoZS1YiKhzSKN18HrstEPXfphs2nr3Dn30aOMnZyCg87aFZkTvYUwFzCy6ThS4MaKf3fgDbYL-3llA39DN3pnge3iWPWm1jfD8WM-yr5vzL-uL_OrT9nK9usprjqsxNxUlpAVDuKYApWCiaakxuICaNkJLUTNZCSqBAwHNjAZZaU4qA0IyQUp6lr05-A7B304QR9V3sQFrtQM_RVVxVhLCpHgIyasq0Yl8_U-yLAWWXMr_glQUvEgDJPDVX-DOTyH9SVRFwTijvJhHKQ5QE3yMAVo1hK7XYa8IVnNU1JwKNadCSay4SlFJopdH56nuwfyWHLORAHbfepe-r58i_NG9xAWj6mZ2no1xxTFOwyUZPsjqznsHD3nKL8Af1yA</recordid><startdate>20081001</startdate><enddate>20081001</enddate><creator>Dokic, H</creator><creator>Barisic, I</creator><creator>Culic, V</creator><creator>Lozic, B</creator><creator>Hecimovic, S</creator><general>Wayne State University Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</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>Q9U</scope><scope>R05</scope><scope>RC3</scope><scope>S0X</scope><scope>7X8</scope><scope>7SN</scope><scope>C1K</scope></search><sort><creationdate>20081001</creationdate><title>Haplotype and AGG Interspersion Analysis of FMR1 Alleles in a Croatian Population: No Founder Effect Detected in Patients with Fragile X Syndrome</title><author>Dokic, H ; Barisic, I ; Culic, V ; Lozic, B ; Hecimovic, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b509t-d9311fed15a3ee6747cf3dd02eb3c7a87b489738e5e1ea4dae89a519de7847163</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Alleles</topic><topic>Biological anthropology</topic><topic>Brief Communications</topic><topic>Case-Control Studies</topic><topic>CGG repeats</topic><topic>Chromosomes</topic><topic>Croatia</topic><topic>DXS548</topic><topic>FMR1</topic><topic>Fragile X Mental Retardation Protein - 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Academic</collection><collection>Ecology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><jtitle>Human biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dokic, H</au><au>Barisic, I</au><au>Culic, V</au><au>Lozic, B</au><au>Hecimovic, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Haplotype and AGG Interspersion Analysis of FMR1 Alleles in a Croatian Population: No Founder Effect Detected in Patients with Fragile X Syndrome</atitle><jtitle>Human biology</jtitle><addtitle>Hum Biol</addtitle><date>2008-10-01</date><risdate>2008</risdate><volume>80</volume><issue>5</issue><spage>581</spage><epage>587</epage><pages>581-587</pages><issn>0018-7143</issn><issn>1534-6617</issn><eissn>1534-6617</eissn><coden>HUBIAA</coden><abstract>Several studies have suggested that fragile X syndrome (FRAXA), the most common inherited form of mental retardation, originated from a limited number of founder chromosomes. The aim of this study is to assess the genetic origin of fragile X syndrome in a Croatian population. We performed a haplotype analysis of the polymorphic loci DXS548 and FRAXAC1 in 18 unrelated fragile X and 56 control chromosomes. The AGG interspersion pattern of the FMR1 CGG repeat region was analyzed by sequencing. This is the first report on haplotype and AGG interspersion analysis of the fragile X syndrome gene in a Croatian population—the only eastern European population of Slavic origin analyzed so far. Our findings are intriguing, because they show a distinct distribution of the DXS548 and FRAXAC1 alleles in our fragile X population compared to other European fragile X populations. The DXS548/FRAXAC1 haplotype 194/154 (7–3), which is common among normal populations, was found to be the most frequent haplotype in our fragile X population as well. The AGG interspersion analysis indicated that AGG loss rather than haplotype may determine FMR1 allele instability. Our results suggest that no common ancestral X chromosome is associated with fragile X syndrome in the Croatian population studied. Further analysis of the origin of fragile X syndrome among other Slavic populations will be necessary to better define its eastern European distribution.</abstract><cop>United States</cop><pub>Wayne State University Press</pub><pmid>19341325</pmid><doi>10.3378/1534-6617-80.5.581</doi><tpages>7</tpages></addata></record> |
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| subjects | Alleles Biological anthropology Brief Communications Case-Control Studies CGG repeats Chromosomes Croatia DXS548 FMR1 Fragile X Mental Retardation Protein - genetics Fragile X Syndrome Fragile X Syndrome - genetics FRAXA FRAXAC1 Gene Frequency Genetic Markers Genetic testing Genetics, Population - statistics & numerical data Genotype haplotype Haplotypes - genetics Human biology Human genetics Humans linkage Male Mental retardation Microsatellite Repeats - genetics Mutation Population Population dynamics Sample size Slavic studies Statistical methods |
| title | Haplotype and AGG Interspersion Analysis of FMR1 Alleles in a Croatian Population: No Founder Effect Detected in Patients with Fragile X Syndrome |
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