Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR
Fragile X Syndrome (FXS) is the most prevalent inherited cause of mental retardation. The prevalence of FXS in males and females are approximately 1 in 4000 and I in 8000 respectively. It is caused by CGG repeat instability in the FMRl gene, located on chromosome Xq27.3. Normal individuals have C...
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| Format: | Article |
| Language: | English |
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Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia
2009
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| Online Access: | http://eprints.usm.my/48705/ http://eprints.usm.my/48705/1/DR.%20HOH%20BOON%20PENG-OCR.pdf |
| _version_ | 1848881230124154880 |
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| author | Peng, Hoh Boon |
| author_facet | Peng, Hoh Boon |
| author_sort | Peng, Hoh Boon |
| building | USM Institutional Repository |
| collection | Online Access |
| description | Fragile X Syndrome (FXS) is the most prevalent inherited cause of mental retardation.
The prevalence of FXS in males and females are approximately 1 in 4000 and I in 8000
respectively. It is caused by CGG repeat instability in the FMRl gene, located on
chromosome Xq27.3. Normal individuals have CGG repeats ranging from 5 to 53. In
premulation carriers, the CGG repeats range from 60 to 200 and shall be more than 200
repeats tor ti.Jil mutation patients. FXS patients have variable clinical features and
because of that, an accurate clinical 'diagnosis is always a problem. Currently,
Cytogenetic, PCR and Southern Blot Techniques are widely used for diagnosis of FXS.
Here we report a pair of brothers suspected to be FXS patients with similar clinical
features. However, the cytogenetic result for younger brother did not show fragile site at
Xq27.3 of the X chromosome while molecular result was confirmatory for FXS.
Conversely, the elder brother showed confirmatory results for Fragile X mutation in both
cytogenetic and molecular analysis. We therefore conclude that cytogenetic analysis
alone Cftnnot be dependable for the confirmatory diagnosis ofFXS. |
| first_indexed | 2025-11-15T18:15:43Z |
| format | Article |
| id | usm-48705 |
| institution | Universiti Sains Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T18:15:43Z |
| publishDate | 2009 |
| publisher | Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | usm-487052021-03-28T01:48:56Z http://eprints.usm.my/48705/ Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR Peng, Hoh Boon R Medicine Fragile X Syndrome (FXS) is the most prevalent inherited cause of mental retardation. The prevalence of FXS in males and females are approximately 1 in 4000 and I in 8000 respectively. It is caused by CGG repeat instability in the FMRl gene, located on chromosome Xq27.3. Normal individuals have CGG repeats ranging from 5 to 53. In premulation carriers, the CGG repeats range from 60 to 200 and shall be more than 200 repeats tor ti.Jil mutation patients. FXS patients have variable clinical features and because of that, an accurate clinical 'diagnosis is always a problem. Currently, Cytogenetic, PCR and Southern Blot Techniques are widely used for diagnosis of FXS. Here we report a pair of brothers suspected to be FXS patients with similar clinical features. However, the cytogenetic result for younger brother did not show fragile site at Xq27.3 of the X chromosome while molecular result was confirmatory for FXS. Conversely, the elder brother showed confirmatory results for Fragile X mutation in both cytogenetic and molecular analysis. We therefore conclude that cytogenetic analysis alone Cftnnot be dependable for the confirmatory diagnosis ofFXS. Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia 2009 Article NonPeerReviewed application/pdf en http://eprints.usm.my/48705/1/DR.%20HOH%20BOON%20PENG-OCR.pdf Peng, Hoh Boon (2009) Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR. Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR. (Submitted) |
| spellingShingle | R Medicine Peng, Hoh Boon Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR |
| title | Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR |
| title_full | Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR |
| title_fullStr | Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR |
| title_full_unstemmed | Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR |
| title_short | Development of rapid screening method for the diagnostic of fragile x syndrome using real time PCR |
| title_sort | development of rapid screening method for the diagnostic of fragile x syndrome using real time pcr |
| topic | R Medicine |
| url | http://eprints.usm.my/48705/ http://eprints.usm.my/48705/1/DR.%20HOH%20BOON%20PENG-OCR.pdf |