Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital
Methylation specific PCR (MS-PCR) is a technology for a sensitive detection of methylation in the gene. This assay was developed for diagnosis of methylation-related diseases including fragile X syndrome (FXS), the most common X-linked mental retardation caused by a CGG trinucleotide repeat expansio...
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| Veröffentlicht in: | Journal of the Medical Association of Thailand 2005-08, Vol.88 (8), p.1057-1061 |
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| container_title | Journal of the Medical Association of Thailand |
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| creator | Charalsawadi, Chariyawan Sripo, Thanya Limprasert, Pornprot |
| description | Methylation specific PCR (MS-PCR) is a technology for a sensitive detection of methylation in the gene. This assay was developed for diagnosis of methylation-related diseases including fragile X syndrome (FXS), the most common X-linked mental retardation caused by a CGG trinucleotide repeat expansion. Affected individuals (full mutation, FM) have CGG greater than 200 repeats, while normal individuals and premutation (PM) carriers have 6-54 and 55-200 repeats, respectively. Only FM individuals are correlated with methylation of the gene. The authors tested this assay on known 35 DNA samples (15 normal, 2 PM and 18 FM) and a prospective study of 60 males referred for FXS screening in Songklanagarind hospital. In addition, the authors tested on 2 prenatal cases. All results were corresponded to PCR for CGG repeats and/ or Southern blot analysis. The authors concluded that MS-PCR provides an accurate method for methylation detection of FXS. |
| format | Article |
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This assay was developed for diagnosis of methylation-related diseases including fragile X syndrome (FXS), the most common X-linked mental retardation caused by a CGG trinucleotide repeat expansion. Affected individuals (full mutation, FM) have CGG greater than 200 repeats, while normal individuals and premutation (PM) carriers have 6-54 and 55-200 repeats, respectively. Only FM individuals are correlated with methylation of the gene. The authors tested this assay on known 35 DNA samples (15 normal, 2 PM and 18 FM) and a prospective study of 60 males referred for FXS screening in Songklanagarind hospital. In addition, the authors tested on 2 prenatal cases. All results were corresponded to PCR for CGG repeats and/ or Southern blot analysis. The authors concluded that MS-PCR provides an accurate method for methylation detection of FXS.</description><identifier>ISSN: 0125-2208</identifier><identifier>PMID: 16404832</identifier><language>eng</language><publisher>Thailand</publisher><subject>DNA Methylation ; Fragile X Mental Retardation Protein - genetics ; Fragile X Syndrome - diagnosis ; Fragile X Syndrome - genetics ; Genetic Markers ; Hospitals, University ; Humans ; In Vitro Techniques ; Male ; Polymerase Chain Reaction - methods ; Prospective Studies ; Repetitive Sequences, Nucleic Acid ; Thailand ; Trinucleotide Repeats</subject><ispartof>Journal of the Medical Association of Thailand, 2005-08, Vol.88 (8), p.1057-1061</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16404832$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Charalsawadi, Chariyawan</creatorcontrib><creatorcontrib>Sripo, Thanya</creatorcontrib><creatorcontrib>Limprasert, Pornprot</creatorcontrib><title>Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital</title><title>Journal of the Medical Association of Thailand</title><addtitle>J Med Assoc Thai</addtitle><description>Methylation specific PCR (MS-PCR) is a technology for a sensitive detection of methylation in the gene. This assay was developed for diagnosis of methylation-related diseases including fragile X syndrome (FXS), the most common X-linked mental retardation caused by a CGG trinucleotide repeat expansion. Affected individuals (full mutation, FM) have CGG greater than 200 repeats, while normal individuals and premutation (PM) carriers have 6-54 and 55-200 repeats, respectively. Only FM individuals are correlated with methylation of the gene. The authors tested this assay on known 35 DNA samples (15 normal, 2 PM and 18 FM) and a prospective study of 60 males referred for FXS screening in Songklanagarind hospital. In addition, the authors tested on 2 prenatal cases. All results were corresponded to PCR for CGG repeats and/ or Southern blot analysis. The authors concluded that MS-PCR provides an accurate method for methylation detection of FXS.</description><subject>DNA Methylation</subject><subject>Fragile X Mental Retardation Protein - genetics</subject><subject>Fragile X Syndrome - diagnosis</subject><subject>Fragile X Syndrome - genetics</subject><subject>Genetic Markers</subject><subject>Hospitals, University</subject><subject>Humans</subject><subject>In Vitro Techniques</subject><subject>Male</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Prospective Studies</subject><subject>Repetitive Sequences, Nucleic Acid</subject><subject>Thailand</subject><subject>Trinucleotide Repeats</subject><issn>0125-2208</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kM1KxDAYRbNQnHH0FSQrd4UkTdvEnQzqDIwo_oC7krZfxmiaxKSF6dtbcFzdzbmHyz1BS0JZkTFGxAKdp_RFCC9kmZ-hBS054SJnS2QeRzuYYOGAexg-J6sG4x1OAVqjTYuf1y9YOWWnZBL2Guuo9sYC_sBpcl30PdxgOASIBlwL2Dj86t3-286dvYrGdXjjUzCDshfoVCub4PKYK_R-f_e23mS7p4ft-naXBcr4kDUdkSAq0JpyJamilHMtKSGN4FwIyQqiZKErUWldyq4kecMEAzHzVGhV5St0_ecN0f-MkIa6N6kFO08CP6a6lKQiFWczeHUEx6aHrg7R9CpO9f85-S-AR2Cp</recordid><startdate>200508</startdate><enddate>200508</enddate><creator>Charalsawadi, Chariyawan</creator><creator>Sripo, Thanya</creator><creator>Limprasert, Pornprot</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200508</creationdate><title>Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital</title><author>Charalsawadi, Chariyawan ; Sripo, Thanya ; Limprasert, Pornprot</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p124t-bd09e87eff14a91a1144f9100b844889250a95f787ff69d603b282e8ff118fa73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>DNA Methylation</topic><topic>Fragile X Mental Retardation Protein - genetics</topic><topic>Fragile X Syndrome - diagnosis</topic><topic>Fragile X Syndrome - genetics</topic><topic>Genetic Markers</topic><topic>Hospitals, University</topic><topic>Humans</topic><topic>In Vitro Techniques</topic><topic>Male</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Prospective Studies</topic><topic>Repetitive Sequences, Nucleic Acid</topic><topic>Thailand</topic><topic>Trinucleotide Repeats</topic><toplevel>online_resources</toplevel><creatorcontrib>Charalsawadi, Chariyawan</creatorcontrib><creatorcontrib>Sripo, Thanya</creatorcontrib><creatorcontrib>Limprasert, Pornprot</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the Medical Association of Thailand</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Charalsawadi, Chariyawan</au><au>Sripo, Thanya</au><au>Limprasert, Pornprot</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital</atitle><jtitle>Journal of the Medical Association of Thailand</jtitle><addtitle>J Med Assoc Thai</addtitle><date>2005-08</date><risdate>2005</risdate><volume>88</volume><issue>8</issue><spage>1057</spage><epage>1061</epage><pages>1057-1061</pages><issn>0125-2208</issn><abstract>Methylation specific PCR (MS-PCR) is a technology for a sensitive detection of methylation in the gene. 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| ispartof | Journal of the Medical Association of Thailand, 2005-08, Vol.88 (8), p.1057-1061 |
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| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection |
| subjects | DNA Methylation Fragile X Mental Retardation Protein - genetics Fragile X Syndrome - diagnosis Fragile X Syndrome - genetics Genetic Markers Hospitals, University Humans In Vitro Techniques Male Polymerase Chain Reaction - methods Prospective Studies Repetitive Sequences, Nucleic Acid Thailand Trinucleotide Repeats |
| title | Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital |
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