Mutation analysis and prenatal diagnosis for a family affected with congenital factor VII deficiency.
- VernacularTitle:一个遗传性凝血因子Ⅶ缺乏症家系的基因突变分析及产前诊断
- Author:
Wei PENG
1
;
Shuxin ZHANG
;
Xin LIU
;
Yanan GU
;
Yan WANG
Author Information
- Publication Type:Case Reports
- MeSH: Factor VII Deficiency; genetics; Humans; Infant, Newborn; Male; Mutation; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2016;33(3):357-360
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo provide mutation analysis and prenatal diagnosis for a family affected with congenital factor VII(FVII) deficiency.
METHODSDNA was extracted from peripheral blood samples from the proband and his parents. All exons and flanking sequence of the FVII gene were amplified with PCR and subjected to direct sequencing. Prenatal diagnosis was performed by amniocentesis.
RESULTSA homozygous mutation (NM_000131.3) c.572-1G>A was identified in the proband. Both parents of the fetus were carriers of the mutation.
CONCLUSIONA method for molecular diagnosis of congenital factor VII deficiency was established and successfully applied for an affected family.
