The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies
Objectives Quantitative Fluorescent PCR (QF-PCR) is a simpler and faster method of detecting common chromosomal abnormalities when compared to cytogenetic analysis. The aim of our study is to investigate the applicability of this methodology in a population where consanguineous marriages are common...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , |
| التنسيق: | article |
| منشور في: |
2006
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| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/2267 http://dx.doi.org/10.1002/pd.1424 http://onlinelibrary.wiley.com/doi/10.1002/pd.1424/full |
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إضافة وسم
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| _version_ | 1864513457865359360 |
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| author | Choueiri, Michel |
| author2 | Makhoul, Nadine Zreik, Tony Mattar, Farid Eid, Raymond Mroueh, Adnan Zalloua, Pierre |
| author2_role | author author author author author author |
| author_facet | Choueiri, Michel Makhoul, Nadine Zreik, Tony Mattar, Farid Eid, Raymond Mroueh, Adnan Zalloua, Pierre |
| author_role | author |
| dc.creator.none.fl_str_mv | Choueiri, Michel Makhoul, Nadine Zreik, Tony Mattar, Farid Eid, Raymond Mroueh, Adnan Zalloua, Pierre |
| dc.date.none.fl_str_mv | 2006 2015-10-07T08:01:45Z 2015-10-07T08:01:45Z 2015-10-07 |
| dc.identifier.none.fl_str_mv | 0197-3851 http://hdl.handle.net/10725/2267 http://dx.doi.org/10.1002/pd.1424 Choueiri, M. B., Makhoul, N. J., Zreik, T. G., Mattar, F., Adra, A. M., Eid, R., ... & Zalloua, P. A. (2006). The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies. Prenatal diagnosis, 26(5), 409-414. http://onlinelibrary.wiley.com/doi/10.1002/pd.1424/full |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | Prenatal diagnosis |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | Objectives Quantitative Fluorescent PCR (QF-PCR) is a simpler and faster method of detecting common chromosomal abnormalities when compared to cytogenetic analysis. The aim of our study is to investigate the applicability of this methodology in a population where consanguineous marriages are common and to estimate the heterozygous frequency of the PCR markers used. Methods Four hundred and twenty-three DNA samples were extracted from uncultured amniocytes and amplified with 18 short tandem repeats (STR) markers specific to chromosomes 13, 18 and 21. Amplification products were analyzed using the GeneScan software. Results QF-PCR correctly identified all the numerical abnormalities related to chromosomes 13, 18 and 21. A total of 24 autosomal trisomies (5.7%) were detected. The markers D21S1432 and D21S11 were the most consistent in providing unequivocal positive results for chromosome 21 and the heterozygosity percentages of the markers used were lower than the values reported in Western populations. Conclusion QF-PCR is reliable for the prenatal diagnosis of numerical anomalies of the chromosomes 13, 18 and 21 in our study population. The absence of STR heterozygosity data from Lebanon and surrounding countries makes our study very useful for the development of a reliable QF-PCR trisomy detection test. Copyright © 2006 John Wiley & Sons, Ltd. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_81c6798aeafb806c8de51fd10c9cd875 |
| identifier_str_mv | 0197-3851 Choueiri, M. B., Makhoul, N. J., Zreik, T. G., Mattar, F., Adra, A. M., Eid, R., ... & Zalloua, P. A. (2006). The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies. Prenatal diagnosis, 26(5), 409-414. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/2267 |
| publishDate | 2006 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | The consanguinity effect on QF‐PCR diagnosis of autosomal anomaliesChoueiri, MichelMakhoul, NadineZreik, TonyMattar, FaridEid, RaymondMroueh, AdnanZalloua, PierreObjectives Quantitative Fluorescent PCR (QF-PCR) is a simpler and faster method of detecting common chromosomal abnormalities when compared to cytogenetic analysis. The aim of our study is to investigate the applicability of this methodology in a population where consanguineous marriages are common and to estimate the heterozygous frequency of the PCR markers used. Methods Four hundred and twenty-three DNA samples were extracted from uncultured amniocytes and amplified with 18 short tandem repeats (STR) markers specific to chromosomes 13, 18 and 21. Amplification products were analyzed using the GeneScan software. Results QF-PCR correctly identified all the numerical abnormalities related to chromosomes 13, 18 and 21. A total of 24 autosomal trisomies (5.7%) were detected. The markers D21S1432 and D21S11 were the most consistent in providing unequivocal positive results for chromosome 21 and the heterozygosity percentages of the markers used were lower than the values reported in Western populations. Conclusion QF-PCR is reliable for the prenatal diagnosis of numerical anomalies of the chromosomes 13, 18 and 21 in our study population. The absence of STR heterozygosity data from Lebanon and surrounding countries makes our study very useful for the development of a reliable QF-PCR trisomy detection test. Copyright © 2006 John Wiley & Sons, Ltd.PublishedN/A2015-10-07T08:01:45Z2015-10-07T08:01:45Z20062015-10-07Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article0197-3851http://hdl.handle.net/10725/2267http://dx.doi.org/10.1002/pd.1424Choueiri, M. B., Makhoul, N. J., Zreik, T. G., Mattar, F., Adra, A. M., Eid, R., ... & Zalloua, P. A. (2006). The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies. Prenatal diagnosis, 26(5), 409-414.http://onlinelibrary.wiley.com/doi/10.1002/pd.1424/fullenPrenatal diagnosisinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/22672019-02-28T09:53:46Z |
| spellingShingle | The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies Choueiri, Michel |
| status_str | publishedVersion |
| title | The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies |
| title_full | The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies |
| title_fullStr | The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies |
| title_full_unstemmed | The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies |
| title_short | The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies |
| title_sort | The consanguinity effect on QF‐PCR diagnosis of autosomal anomalies |
| url | http://hdl.handle.net/10725/2267 http://dx.doi.org/10.1002/pd.1424 http://onlinelibrary.wiley.com/doi/10.1002/pd.1424/full |