Next generation sequencing of an australian family to identify the genetic basis of a rare blood group antigen

摘要: Aim The SARAH red blood cell (RBC) antigen has been described in two families world-wide and recently implicated a case of severe haemolytic disease the fetus newborn (HDFN). This study aimed to identify genetic basis SARAH. Methods DNA samples were collected from nine family members (six positive) three generations. Samples exome sequenced using Agilent SureSelect All Exon v4 + UTR kit on an Illumina HiSeq2000. Sequence alignment was performed with CASAVA vl.8.2, mapping reference genome HG19. Results Sequencing identified 73 782 SNVs common among all members. SNV filtering excluded NCBI dbSNP ID, non-protein coding SNVs, not present six positive only. Following filtering, one Glycophorin A ( GYPA) gene identified. is 1000 Genomes Project (1000G) or Exome (ESP6500) databases, further confirming this novel low-frequency. Discussion for by utilising next generation sequencing related individuals. approach application investigations relating other rare phenotypes diseases unknown basis.