Analysis of FMR1 gene CGG repeats among patients with diminished ovarian reserve / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 343-346, 2021.
Article
em Zh
| WPRIM
| ID: wpr-879582
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR).@*METHODS@#For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis.@*RESULTS@#Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations.@*CONCLUSION@#FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Doenças Ovarianas
/
Insuficiência Ovariana Primária
/
Repetições de Trinucleotídeos
/
Proteína do X Frágil da Deficiência Intelectual
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Reserva Ovariana
/
Síndrome do Cromossomo X Frágil
Tipo de estudo:
Guideline
Limite:
Female
/
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Article