Molecular markers for diagnosis of prader-willi syndrome in thai patients by fish
Paternal microdeletion of chromosome 15 at q11-q13 has been reported in 75 % of Prader-Willi syndrome (PWS) patients in western countries. Diagnosis of PWS in Thailand is mainly based on clinical observation and, in some cases, confirmed by conventional cytogenetic analysis. Loss of a tiny segment i...
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th-mahidol.209722018-07-24T10:27:46Z Molecular markers for diagnosis of prader-willi syndrome in thai patients by fish Sirilak Wiriyaukaradecha Pimpicha Patmasiriwat Pornswan Wasant Pornsri Tantiniti Mahidol University Medicine Paternal microdeletion of chromosome 15 at q11-q13 has been reported in 75 % of Prader-Willi syndrome (PWS) patients in western countries. Diagnosis of PWS in Thailand is mainly based on clinical observation and, in some cases, confirmed by conventional cytogenetic analysis. Loss of a tiny segment in this region (microdeletion) has made it difficult to discriminate from the normal karyotype. An attempt to solve this problem has been made by using a high resolution chromosome culture. However, this method is a tedious and time-consuming technique which is suitable for only experienced cytogeneticists. We report molecular cytogenetic analysis for PWS in Thai patients using FISH in addition to standard GTG- banding chromosome analysis. Nine Thai patients clinically diagnosed or with a suspicion of PWS were investigated. The FISH probes consist of the region-specific probes (SNRPN or D15S10 probe) and two chromosome 15-specific control probes (D15Z1 centromeric and PML chromosome 15 long arm probe). Bright field and FISH programs of an automatic karyotyper were applied to facilitate the efficiency of the chromosome analysis. We found that 2 out of 9 patients showed a deletion at 15q11-q13 region by standard GTG chromosome analysis while 4 out of 9 patients showed a delation in this region by FISH. Consistent losing of SNRPN and D15S10 signals in FISH was observed in these patients. This forty-four per cent deletion is considerably lower than those reported from western countries. We propose that DNA methylation at SNRPN promoter as well as structural abnormalities in other chromosome regions might also play a role in the etiology of this disorder in Thais, which should be investigated further. 2018-07-24T03:27:46Z 2018-07-24T03:27:46Z 2003-12-01 Article Southeast Asian Journal of Tropical Medicine and Public Health. Vol.34, No.4 (2003), 881-886 01251562 2-s2.0-1842684414 https://repository.li.mahidol.ac.th/handle/123456789/20972 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=1842684414&origin=inward |
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Medicine Sirilak Wiriyaukaradecha Pimpicha Patmasiriwat Pornswan Wasant Pornsri Tantiniti Molecular markers for diagnosis of prader-willi syndrome in thai patients by fish |
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Paternal microdeletion of chromosome 15 at q11-q13 has been reported in 75 % of Prader-Willi syndrome (PWS) patients in western countries. Diagnosis of PWS in Thailand is mainly based on clinical observation and, in some cases, confirmed by conventional cytogenetic analysis. Loss of a tiny segment in this region (microdeletion) has made it difficult to discriminate from the normal karyotype. An attempt to solve this problem has been made by using a high resolution chromosome culture. However, this method is a tedious and time-consuming technique which is suitable for only experienced cytogeneticists. We report molecular cytogenetic analysis for PWS in Thai patients using FISH in addition to standard GTG- banding chromosome analysis. Nine Thai patients clinically diagnosed or with a suspicion of PWS were investigated. The FISH probes consist of the region-specific probes (SNRPN or D15S10 probe) and two chromosome 15-specific control probes (D15Z1 centromeric and PML chromosome 15 long arm probe). Bright field and FISH programs of an automatic karyotyper were applied to facilitate the efficiency of the chromosome analysis. We found that 2 out of 9 patients showed a deletion at 15q11-q13 region by standard GTG chromosome analysis while 4 out of 9 patients showed a delation in this region by FISH. Consistent losing of SNRPN and D15S10 signals in FISH was observed in these patients. This forty-four per cent deletion is considerably lower than those reported from western countries. We propose that DNA methylation at SNRPN promoter as well as structural abnormalities in other chromosome regions might also play a role in the etiology of this disorder in Thais, which should be investigated further. |
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Mahidol University |
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Mahidol University Sirilak Wiriyaukaradecha Pimpicha Patmasiriwat Pornswan Wasant Pornsri Tantiniti |
format |
Article |
author |
Sirilak Wiriyaukaradecha Pimpicha Patmasiriwat Pornswan Wasant Pornsri Tantiniti |
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Sirilak Wiriyaukaradecha |
title |
Molecular markers for diagnosis of prader-willi syndrome in thai patients by fish |
title_short |
Molecular markers for diagnosis of prader-willi syndrome in thai patients by fish |
title_full |
Molecular markers for diagnosis of prader-willi syndrome in thai patients by fish |
title_fullStr |
Molecular markers for diagnosis of prader-willi syndrome in thai patients by fish |
title_full_unstemmed |
Molecular markers for diagnosis of prader-willi syndrome in thai patients by fish |
title_sort |
molecular markers for diagnosis of prader-willi syndrome in thai patients by fish |
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2018 |
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https://repository.li.mahidol.ac.th/handle/123456789/20972 |
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1763494078802034688 |