Loss of zona pellucida in oocytes due to compound heterozygous variants of ZP1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 789-791, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-826485
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a patient with primary infertility due to loss of zona pellucida.@*METHODS@#The proband and his parents were subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatics analysis.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the ZP1 gene in exon 5 c.874C>T(Gln292*) and exon 7 c.1127_1128delCT (p.Ala376GlyTer386), which were respectively inherited from her mother and father.@*CONCLUSION@#The compound heterozygous variant of ZP1 gene probably underlie the loss of zona pellucida in oocyte disease in the proband.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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