A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family B). Homo sapiens

Affymetrix 6.0 SNP data for haplotype comparison of patients from two different families sharing the same homozygous mutation in TFRC, to determine if the families were related to each other Peripheral blood was used for patients who had no history of hematopoietic stem cell transplant (HSCT). Fibroblasts cell lines were used as a source of DNA for the individual who received HSCT. Overall design: Genomic DNA from 3 subjects (2 from Family A, 1 from Family B in duplicate) was genotyped at 909,622 single nucleotide polymorphisms (SNPs) on the Genome-Wide Human SNP 6.0 Array (Affymetrix).

本数据集为Affymetrix 6.0单核苷酸多态性（single nucleotide polymorphism, SNP）数据，用于对携带TFRC基因相同纯合突变的两个不同家系患者开展单倍型比较，以判定两家系是否存在亲缘关系。针对无造血干细胞移植（hematopoietic stem cell transplant, HSCT）史的患者，采用外周血作为样本来源；对于接受过HSCT的个体，则以成纤维细胞系作为基因组DNA的提取来源。实验整体设计：对3名受试者（家系A共2名，家系B共1名，其中家系B的受试者样本进行重复检测）的基因组DNA，在Affymetrix全基因组人类SNP 6.0芯片（Genome-Wide Human SNP 6.0 Array）上完成909,622个单核苷酸多态性位点的基因分型。