Study of two Chinese families affected with resistant ovarian syndrome resulted from novel mutations of FSHR gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 196-199, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-335157
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic etiology for two Chinese families affected with hypergonadotropic amenorrhea and normal number of antral follicles.</p><p><b>METHODS</b>Peripheral venous blood samples were collected from the families for the extraction of genomic DNA. Mutations of FSHR and LHCGR genes were screened using PCR and Sanger sequencing. Suspected pathogenic mutations were verified in other members of the families. Bioinformatics software and NCBI were used to analyze the pathogenicity of the mutations.</p><p><b>RESULTS</b>Two previously unreported homozygous mutations, c.419delA and c.1510C>T of the FSHR gene were found in the probands of family I and II, respectively. Pedigree and bioinformatics analysis suggested that both mutations were pathogenic. Literature review suggested that both families were affected with resistant ovary syndrome rather than premature ovarian failure.</p><p><b>CONCLUSION</b>Two novel mutations of the FSHR gene have been identified, which have enriched the spectrum of FSHR gene mutations and provided a basis for genetic counseling and direction for reproduction.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedades del Ovario
/
Linaje
/
Receptores de HFE
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
China
/
Pueblo Asiatico
/
Diagnóstico
/
Genética
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Adulto
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Artículo
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