Pedigree investigation and genetic analysis of a case with p blood group.
- Author:
Yan-chun LIU
1
,
2
,
3
;
Ling ZHENG
;
Yi LIU
;
Min-hui WU
;
Ling MA
;
Peng WEI
;
Jun SUN
Author Information
- Publication Type:Case Reports
- MeSH: Blood Group Antigens; genetics; Galactosyltransferases; genetics; Humans; Male; Middle Aged; Mutation; Pedigree; Phenotype; Polymorphism, Genetic; Stomach Neoplasms; blood; genetics
- From: Chinese Journal of Medical Genetics 2013;30(6):736-738
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the molecule basis of a p blood group in a patient with gastric carcinoma.
METHODSThe p phenotype was determined with serological method. Inheritance of the p phenotype was investigated by pedigree analysis. Sequence of α-1,4- galactosyltransferase (A4GALT) gene was determined by Sanger method.
RESULTSThe proband and his younger brother were both determined to have a p phenotype. Two homozygous variations, c.343A>T (AAA>TAA) and c.903C>G (CCC>CCG), have been detected in exon 3 of the A4GALT gene. Among these, c.343 A>T (AAA>TAA) was a novel mutation, which has resulted in a termination codon, with which no normal product of the gene can be produced. c.903C>G was determined to be a polymorphism.
CONCLUSIONA novel c.343A>T mutation in the A4GALT gene probably underlies the p phenotype, to which a Genbank access number KC202808 has been assigned.
