CD31/PECAM-1 genotyping and haplotype analyses show population diversity.

F-M Robbins, R J Hartzman
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引用次数: 12

Abstract

Using direct sequencing of complementary DNA products, the sequences of human CD31 from exon 1 through exon 16 of 179 individuals (139 unrelated) were systematically examined. Of the 14 biallelic single nucleotide polymorphic sites detected, 7 polymorphic sites involved amino acid substitution. These 14 polymorphic sites yielded 18 observed CD31 alleles and 9 predicted CD31 polypeptide sequences. Based on molecular haplotyping and family pedigree analysis, linkage disequilibrium among some single nucleotide polymorphic sites was observed. Single nucleotide polymorphism frequencies between populations were also measured using dot-blot hybridization with DNA or peptide nucleic acid probes.

CD31/PECAM-1基因分型和单倍型分析显示群体多样性。
利用互补DNA产物的直接测序,系统检测了179例(139例无亲缘关系)人CD31外显子1至外显子16的序列。在检测到的14个双等位基因单核苷酸多态性位点中,7个多态性位点涉及氨基酸取代。这14个多态性位点产生了18个CD31等位基因和9个预测CD31多肽序列。通过分子单倍型和家系分析,发现部分单核苷酸多态性位点存在连锁不平衡。群体间的单核苷酸多态性频率也用DNA或肽核酸探针进行点杂交测定。
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来源期刊
Tissue antigens
Tissue antigens 医学-病理学
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