[Phenotype Types and Genetic Mutation Mechanism of Rhesus D Variant Individuals].

Objective: To explore the phenotype types and genetic mutation mechanism of Rhesus D variant individuals.

Methods: Fouty-eight peripheral blood samples of pregnancies and blood donors who had been identified as Rhesus D variant by using routine serologic methods were collected from January 2013 to October 2015 in our center. The multiple ligation-dependent probe amplification(MLPA) was used to determine the RHD after genomic DNA had been extracted from the blood sample, then the data including gene copy number variations, point mutations, deletions and hybrid fusions were analyzed by GeneMarker software.

[Serological and genetic study of a pedigree featuring a rare p phenotype].

Objective: To explore genetic background of a pedigree with a rare p phenotype from Guangdong province.

Methods: The rare p phenotype was identified by a conventional serologic method. With genomic DNA of proband and family members extracted, exon 3 of alpha-(1,4)galactosyltransferase (A4GALT) gene was amplified with PCR and analyzed by direct sequencing.