A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan
| Autor: | J.-J. Jiang, H.-M. Liang, L.-P. Tsai, Y.-Y. Chang, Y.-J. Hung, Y.-K. Chang, Y.-P. Su, C.-C. Tzeng |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Prenatal diagnosis Disease Fragile X Mental Retardation Protein 03 medical and health sciences Pregnancy Prenatal Diagnosis Intellectual disability Genetics Humans Medicine Genetic Testing Allele Family history Alleles Genetics (clinical) business.industry Obstetrics Genetic Carrier Screening Infant Newborn medicine.disease FMR1 Confidence interval Fragile X syndrome 030104 developmental biology Fragile X Syndrome Mutation Female business |
| Zdroj: | Clinical Genetics. 92:217-220 |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/cge.12981 |
| Popis: | Here, we review the results of Southern blotting analyses of the FMR1 gene performed in our reference laboratory in Taiwan over a 15-year period. In total, 725 high-risk women with a family history of fragile X syndrome (FXS) or idiopathic intellectual disability, 3911 low-risk pregnant women without such family history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only 2 carriers were in the low-risk group, which indicated a prevalence of 1 of 1955 women (95% confidence interval: 1/7156-1/539). A total of 100 carriers were found to be in the high-risk group, thus revealing a significantly higher frequency than the low-risk group (100/725 vs 2/3911, P |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text