Diagnosis of fragile X syndrome by using cytogenetic and molecular approach
The study of fragile X syndrome diagnostic tests was conducted at the Human Genome Center (HGC), Hospital University Science Malaysia (HUSM). In this study, two diagnostic tests were investigated, namely cytogenetic test and molecular test. Cytogenetic test employed standard method of karyotyping t...
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| Format: | Academic Exercise |
| Language: | English |
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Universiti Malaysia Sabah
2007
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| Online Access: | https://eprints.ums.edu.my/id/eprint/22112/1/Diagnosis%20of%20fragile%20X%20syndrome%20by%20using%20Cytogenetic%20and%20molecular%20approaches.pdf |
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| author | Tan, Suat Cheng |
| author_facet | Tan, Suat Cheng |
| author_sort | Tan, Suat Cheng |
| collection | UMS |
| description | The study of fragile X syndrome diagnostic tests was conducted at the Human Genome Center (HGC), Hospital University Science Malaysia (HUSM). In this study, two diagnostic tests were investigated, namely cytogenetic test and molecular test.
Cytogenetic test employed standard method of karyotyping to investigate the structural abnormalities of chromosome X. From the karyotypes produced, abnormal fragile site was detected on the chromosome X of one (Sample 6) out of seven samples (14.3%). The presence of fragile site on chromosome X indicates that the patient is afiected by fragile X syndrome. Molecular test was based on the study of
the gene that causes this syndrome, namely Fragile X Mental Retardation-I (FMRl) n
gene. An extension of CGG triplet repeat region at the 5' end of FMRl gene can
cause fragile X syndrome. The focus of molecular test was to investigate the (CGG)n
variant in the 7 samples using PCR technique. With the PCR analysis, normal FMRl
allele was detected in six out of seven samples (Sample 1 to 7 except Sample 6). The
CGG repeats number of these normal samples ranges between 8 and 30 repeats. In
Sample 6, no amplified fragment was generated by PCR in the first trial. However,
after optimization, a DNA fragment with estimated size 850bp was amplified. The
number of CGG repeats of this fragment was 215 repeats. This showed that the
particular patient had expanded CGG alleles on FMRI gene and he was diagnosed as
fragile X syndrome positive patient. Molecular test diagnostic result was comparable
with the diagnostic result of cytogenetic test. Both tests revealed that among the seven
samples, only one sample (Sample 6) was fragile X syndrome positive. |
| first_indexed | 2024-03-06T02:59:26Z |
| format | Academic Exercise |
| id | ums.eprints-22112 |
| institution | Universiti Malaysia Sabah |
| language | English |
| last_indexed | 2024-03-06T02:59:26Z |
| publishDate | 2007 |
| publisher | Universiti Malaysia Sabah |
| record_format | dspace |
| spelling | ums.eprints-221122019-10-29T23:49:11Z https://eprints.ums.edu.my/id/eprint/22112/ Diagnosis of fragile X syndrome by using cytogenetic and molecular approach Tan, Suat Cheng QP Physiology The study of fragile X syndrome diagnostic tests was conducted at the Human Genome Center (HGC), Hospital University Science Malaysia (HUSM). In this study, two diagnostic tests were investigated, namely cytogenetic test and molecular test. Cytogenetic test employed standard method of karyotyping to investigate the structural abnormalities of chromosome X. From the karyotypes produced, abnormal fragile site was detected on the chromosome X of one (Sample 6) out of seven samples (14.3%). The presence of fragile site on chromosome X indicates that the patient is afiected by fragile X syndrome. Molecular test was based on the study of the gene that causes this syndrome, namely Fragile X Mental Retardation-I (FMRl) n gene. An extension of CGG triplet repeat region at the 5' end of FMRl gene can cause fragile X syndrome. The focus of molecular test was to investigate the (CGG)n variant in the 7 samples using PCR technique. With the PCR analysis, normal FMRl allele was detected in six out of seven samples (Sample 1 to 7 except Sample 6). The CGG repeats number of these normal samples ranges between 8 and 30 repeats. In Sample 6, no amplified fragment was generated by PCR in the first trial. However, after optimization, a DNA fragment with estimated size 850bp was amplified. The number of CGG repeats of this fragment was 215 repeats. This showed that the particular patient had expanded CGG alleles on FMRI gene and he was diagnosed as fragile X syndrome positive patient. Molecular test diagnostic result was comparable with the diagnostic result of cytogenetic test. Both tests revealed that among the seven samples, only one sample (Sample 6) was fragile X syndrome positive. Universiti Malaysia Sabah 2007 Academic Exercise PeerReviewed text en https://eprints.ums.edu.my/id/eprint/22112/1/Diagnosis%20of%20fragile%20X%20syndrome%20by%20using%20Cytogenetic%20and%20molecular%20approaches.pdf Tan, Suat Cheng (2007) Diagnosis of fragile X syndrome by using cytogenetic and molecular approach. Universiti Malaysia Sabah. (Unpublished) |
| spellingShingle | QP Physiology Tan, Suat Cheng Diagnosis of fragile X syndrome by using cytogenetic and molecular approach |
| title | Diagnosis of fragile X syndrome by using cytogenetic and molecular approach |
| title_full | Diagnosis of fragile X syndrome by using cytogenetic and molecular approach |
| title_fullStr | Diagnosis of fragile X syndrome by using cytogenetic and molecular approach |
| title_full_unstemmed | Diagnosis of fragile X syndrome by using cytogenetic and molecular approach |
| title_short | Diagnosis of fragile X syndrome by using cytogenetic and molecular approach |
| title_sort | diagnosis of fragile x syndrome by using cytogenetic and molecular approach |
| topic | QP Physiology |
| url | https://eprints.ums.edu.my/id/eprint/22112/1/Diagnosis%20of%20fragile%20X%20syndrome%20by%20using%20Cytogenetic%20and%20molecular%20approaches.pdf |
| work_keys_str_mv | AT tansuatcheng diagnosisoffragilexsyndromebyusingcytogeneticandmolecularapproach |