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Miri, Mohammad Reza, Saberzadeh, Jamileh, Behzad Behbahani, Abbas, Tabei, Mohammad Bagher, Alipour, Mohsen, Fardaei, Majid. (1398). Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome. سامانه مدیریت نشریات علمی, 44(3), 214-219. doi: 10.30476/ijms.2019.44976
Mohammad Reza Miri; Jamileh Saberzadeh; Abbas Behzad Behbahani; Mohammad Bagher Tabei; Mohsen Alipour; Majid Fardaei. "Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome". سامانه مدیریت نشریات علمی, 44, 3, 1398, 214-219. doi: 10.30476/ijms.2019.44976
Miri, Mohammad Reza, Saberzadeh, Jamileh, Behzad Behbahani, Abbas, Tabei, Mohammad Bagher, Alipour, Mohsen, Fardaei, Majid. (1398). 'Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome', سامانه مدیریت نشریات علمی, 44(3), pp. 214-219. doi: 10.30476/ijms.2019.44976
Miri, Mohammad Reza, Saberzadeh, Jamileh, Behzad Behbahani, Abbas, Tabei, Mohammad Bagher, Alipour, Mohsen, Fardaei, Majid. Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome. سامانه مدیریت نشریات علمی, 1398; 44(3): 214-219. doi: 10.30476/ijms.2019.44976

Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome

Iranian Journal of Medical Sciences
مقاله 4، دوره 44، شماره 3، مرداد 2019، صفحه 214-219    اصل مقاله (544.44 K)
نوع مقاله: Original Article(s)
شناسه دیجیتال (DOI): 10.30476/ijms.2019.44976
نویسندگان
Mohammad Reza Miri1؛ Jamileh Saberzadeh1؛ Abbas Behzad Behbahani2؛ Mohammad Bagher Tabei3؛ Mohsen Alipour4؛ Majid Fardaei* 5
1Department of Medical Biotechnology, School of Advanced Medical Sciences and Technology, Shiraz University of Medical Sciences, Shiraz, Iran
2Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran
3Department of Medical Genetics, School of Medical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran; and Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran
4Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran
5Department of Medical Genetics, School of Medical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran; andComprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran
چکیده
Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficiency of a method based on applying segmental duplications (SDs) in conjunction with STRs as an alternative to stand-alone STR-based QF-PCR for the diagnosis of Down syndrome. Methods: Fifty amniotic fluid samples from pregnant women carrying Down syndrome fetuses, 9 amniotic fluid samples with 1 or without any informative STR marker (inconclusive), and 100 normal samples were selected from Shiraz, Iran, between October 2015 and December 2016. Analysis was done using an in-house STR-SD-based multiplex QF-PCR and the results were compared. Statistical analysis was performed using MedCalc, version 14.Results: All the normal, Down syndrome, and inconclusive samples were accurately identified by the STR-SD-based multiplex QF-PCR, yielding 100% sensitivity and 100% specificity. Karyotype analysis confirmed all the cases with normal or trisomic results.Conclusion: The STR-SD-based multiplex QF-PCR correctly identified all the normal and trisomy 21 samples regardless of the absence of informative STR markers. The STR-SD-based multiplex QF-PCR is a feasible and particularly useful assay in populations with a high prevalence of homozygote STR markers.
کلیدواژه‌ها
Multiplex polymerase chain reaction؛ Microsatellite repeats؛ Down syndrome؛ Segmental duplications
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