Pedigree investigation and genetic analysis of a case with Vel heterozygous deletion mutation.
- Author:
Taixiang LIU
1
;
Yanchun LIU
;
Ling MA
;
Fang ZHAO
;
Ruoyang ZHANG
;
Lili SHI
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Blood Group Antigens; genetics; Female; Gene Deletion; Genetic Testing; Homozygote; Humans; Male; Membrane Proteins; genetics; Pedigree; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2017;34(6):888-890
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze an individual with SMIM1 c.64_80 heterozygous deletional mutation and his family members.
METHODSBased on the molecular basis of Vel negative blood type, PCR primers specific for SMIM1 wild-type allele and c.64_80del allele were designed. PCR-sequence specific primer (PCR-SSP) and Sanger sequencing were employed to determine the genotype of all subjects. Inheritance of the Vel blood group system was investigated by pedigree analysis.
RESULTSPCR-SSP and DNA sequencing demonstrated that the proband was heterozygous for the SMIM1 c.64_80del allele. Pedigree investigation showed that his father had the same mutation, while his mother and elder sister were of wide type. No individual with homozygous c.64_80del allele was found.
CONCLUSIONPCR-SSP and DNA sequencing confirmed that the proband was heterozygous for the c.64_80del mutation. The mutation inherits form his father.
