Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities
Autor: | Ariana Kariminejad, Kimia Najafi, Roxana Kariminejad, Hossein Najmabadi, Siavash Ghaderi-Sohi, Zohreh Mehrjoo, Fariba Ardalani |
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Rok vydání: | 2021 |
Předmět: |
Male
0301 basic medicine Abortion Habitual medicine.medical_specialty DNA Copy Number Variations Science Gestational Age Genomics Iran Article Miscarriage Consanguinity 03 medical and health sciences 0302 clinical medicine Unknown Significance Pregnancy Exome Sequencing Genetics medicine Humans Sequencing Genetic Testing Exome sequencing Genetic testing Chromosome Aberrations 030219 obstetrics & reproductive medicine Multidisciplinary medicine.diagnostic_test Obstetrics business.industry medicine.disease 030104 developmental biology Mutation Medicine Medical genetics Female business Comparative genomic hybridization |
Zdroj: | Scientific Reports Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021) |
ISSN: | 2045-2322 |
DOI: | 10.1038/s41598-021-86309-9 |
Popis: | Recurrent miscarriages occur in about 5% of couples trying to conceive. In the past decade, the products of miscarriage have been studied using array comparative genomic hybridization (a-CGH). Within the last decade, an association has been proposed between miscarriages and single or multigenic changes, introducing the possibility of detecting other underlying genetic factors by whole exome sequencing (WES). We performed a-CGH on the products of miscarriage from 1625 Iranian women in consanguineous or non-consanguineous marriages. WES was carried out on DNA extracted from the products of miscarriage from 20 Iranian women in consanguineous marriages and with earlier normal genetic testing. Using a-CGH, a statistically significant difference was detected between the frequency of imbalances in related vs. unrelated couples (P |
Databáze: | OpenAIRE |
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