干旱区生态环境知识资源中心(Arid): Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data

Arid

DOI	10.1111/trf.15047
	Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data
	Schoeman, Elizna M.; Roulis, Eileen, V; Perry, Maree A.; Flower, Robert L.; Hyland, Catherine A.
通讯作者	Hyland, Catherine A.
来源期刊	TRANSFUSION
ISSN	0041-1132
EISSN	1537-2995
出版年	2019
卷号	59 期号:2 页码:768-778
英文摘要	BACKGROUND: The distribution of RBC antigens, which define blood group types, differs among populations. In contrast to many world populations, blood group profiles for Indigenous Australians have not been well studied. As it is now possible to predict comprehensive blood group antigen profiles from genomic data sets, we aimed to apply this for Indigenous Australians and to provide a comparison to other major world populations. STUDY DESIGN AND METHODS: Whole exome sequence data for 72 Western Desert Indigenous Australians was provided by the Telethon Kids Institute. Variants (against hg19) were annotated using computer software (ANNOVAR, Qiagen Bioinformatics) and filtered to include only variants in genes for 36 blood group systems, and the transcription factors KLF1 and GATA1. The RHCE*C allele and RHD zygosity were identified by copy number variant analysis of sequence alignments. The impact of missense variants was investigated in silico using a meta-predictor of disease-causing variants (Meta-SNP). RESULTS: For 21 blood group systems the predicted blood group antigen frequencies were comparable to those for other major world populations. For 13 systems, interesting points of contrast were identified. Furthermore, we identified 12 novel variants, one novel D allele, and four rare variants with potential clinical significance. CONCLUSION: This is the first systematic assessment of genomic data to elucidate blood group antigen profiles for Indigenous Australians who are linguistically and culturally diverse. Our study paves the way to understanding the geographic distribution of blood group variants in different Indigenous groups and the associated RBC phenotypes. This in turn is expected to guide transfusion practice for Indigenous individuals.
类型	Article
语种	英语
国家	Australia
收录类别	SCI-E
WOS记录号	WOS:000459614500042
WOS关键词	GROUP GENETIC SURVEY ; HEMOLYTIC-DISEASE ; GROUP SYSTEMS ; CELL ; ABORIGINES ; EXPRESSION ; DELETIONS ; DEFINES ; VARIANT ; XG
WOS类目	Hematology
WOS研究方向	Hematology
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/219116
作者单位	Australian Red Cross Blood Serv, Clin Serv & Res, 44 Musk Ave, Kelvin Grove, Qld 4059, Australia
推荐引用方式 GB/T 7714	Schoeman, Elizna M.,Roulis, Eileen, V,Perry, Maree A.,et al. Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data[J],2019,59(2):768-778.
APA	Schoeman, Elizna M.,Roulis, Eileen, V,Perry, Maree A.,Flower, Robert L.,&Hyland, Catherine A..(2019).Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data.TRANSFUSION,59(2),768-778.
MLA	Schoeman, Elizna M.,et al."Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data".TRANSFUSION 59.2(2019):768-778.