Molecular study of two novel RHD alleles and pedigree analysis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the segregation of two novel RHD alleles in Chinese pedigrees.</p><p><b>METHODS</b>The Rh antigens of the samples were identified by using monoclonal antibodies. The 10 exons of the RHD gene for the 2 probands and their family members were amplified separately and sequenced. The parents of proband 2 were analyzed by sequence specific primer-polymerase chain reaction (SSP-PCR).</p><p><b>RESULTS</b>The two probands were RhD negative and the RHD was D/d type. After alignment with the nucleotide sequence in GenBank, a deletion of nucleotide C at position 78 in exon 1 of proband 1 was detected, and her sister also had the deletion, which was confirmed by sequencing. The sequencing results of proband 2 showed a 10 nucleotide deletion in exon 8 as well as a RHD 520 G to A mutation in exon 4. The results of SSP-PCR and sequencing showed that the proband's mother also carried RHD 520 G to A and RHD 1080 del 10 mutation, which was transmitted to proband 2. The sequences of the novel alleles have been submitted to GenBank (accession No. GQ477180 and GU362076).</p><p><b>CONCLUSION</b>The two novel RHD alleles, RHD 78delC and RHD 520 G to A+1080 del 10, were both pseudo genes and stably transmitted.</p>