PMC:5985360 / 14884-16167 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5985360","sourcedb":"PMC","sourceid":"5985360","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5985360","text":"To strengthen the association with rs334, we investigated lower levels of r2. There were three markers with r2≥0.3: rs183055323, rs149481026, and rs73404549. These three markers ranged across 132.6 kb, including the entire β-globin cluster. This interval was substantially smaller than the average distance between phasing errors. On the basis of these three markers, we identified five unique haplotypes (Table 3). One haplotype contained all occurrences of the Arabian/Indian, Cameroon, and CAR haplotypes. This haplotype contained the ancestral allele at all three markers. The Senegal haplotype was distributed across all five haplotypes, and the Benin haplotype was distributed across four of the five haplotypes. V˜2 between these three markers and rs334 was 0.753 (Figure 1B).\nTable 3 Distribution of Sickle Haplotypes under a Sequence-Based Classification Scheme Using Three Markers\nName Haplotypea Arabian/Indian Benin Cameroon CAR Senegal Atypical\nAncestor 0000 NA NA NA NA NA NA\nHAPA 0010 1 4 2 38 1 1\nHAPB 0011 0 2 0 0 1 0\nHAPC 0110 0 1 0 0 1 1\nHAPD 0111 0 40 0 0 15 0\nHAPE 1010 0 0 0 0 43 1\na 0 indicates the reference allele, and 1 indicates the alternate allele according to the coding scheme in the 1000 Genomes Project VCF files. The sickle site rs334 is underlined.","divisions":[{"label":"label","span":{"begin":784,"end":791}},{"label":"caption","span":{"begin":792,"end":890}},{"label":"p","span":{"begin":792,"end":890}},{"label":"table","span":{"begin":891,"end":1103}},{"label":"tr","span":{"begin":891,"end":957}},{"label":"th","span":{"begin":891,"end":895}},{"label":"th","span":{"begin":896,"end":906}},{"label":"th","span":{"begin":907,"end":921}},{"label":"th","span":{"begin":922,"end":927}},{"label":"th","span":{"begin":928,"end":936}},{"label":"th","span":{"begin":937,"end":940}},{"label":"th","span":{"begin":941,"end":948}},{"label":"th","span":{"begin":949,"end":957}},{"label":"tr","span":{"begin":958,"end":989}},{"label":"td","span":{"begin":958,"end":966}},{"label":"td","span":{"begin":967,"end":971}},{"label":"td","span":{"begin":972,"end":974}},{"label":"td","span":{"begin":975,"end":977}},{"label":"td","span":{"begin":978,"end":980}},{"label":"td","span":{"begin":981,"end":983}},{"label":"td","span":{"begin":984,"end":986}},{"label":"td","span":{"begin":987,"end":989}},{"label":"tr","span":{"begin":990,"end":1012}},{"label":"td","span":{"begin":990,"end":994}},{"label":"td","span":{"begin":995,"end":999}},{"label":"td","span":{"begin":1000,"end":1001}},{"label":"td","span":{"begin":1002,"end":1003}},{"label":"td","span":{"begin":1004,"end":1005}},{"label":"td","span":{"begin":1006,"end":1008}},{"label":"td","span":{"begin":1009,"end":1010}},{"label":"td","span":{"begin":1011,"end":1012}},{"label":"tr","span":{"begin":1013,"end":1034}},{"label":"td","span":{"begin":1013,"end":1017}},{"label":"td","span":{"begin":1018,"end":1022}},{"label":"td","span":{"begin":1023,"end":1024}},{"label":"td","span":{"begin":1025,"end":1026}},{"label":"td","span":{"begin":1027,"end":1028}},{"label":"td","span":{"begin":1029,"end":1030}},{"label":"td","span":{"begin":1031,"end":1032}},{"label":"td","span":{"begin":1033,"end":1034}},{"label":"tr","span":{"begin":1035,"end":1056}},{"label":"td","span":{"begin":1035,"end":1039}},{"label":"td","span":{"begin":1040,"end":1044}},{"label":"td","span":{"begin":1045,"end":1046}},{"label":"td","span":{"begin":1047,"end":1048}},{"label":"td","span":{"begin":1049,"end":1050}},{"label":"td","span":{"begin":1051,"end":1052}},{"label":"td","span":{"begin":1053,"end":1054}},{"label":"td","span":{"begin":1055,"end":1056}},{"label":"tr","span":{"begin":1057,"end":1080}},{"label":"td","span":{"begin":1057,"end":1061}},{"label":"td","span":{"begin":1062,"end":1066}},{"label":"td","span":{"begin":1067,"end":1068}},{"label":"td","span":{"begin":1069,"end":1071}},{"label":"td","span":{"begin":1072,"end":1073}},{"label":"td","span":{"begin":1074,"end":1075}},{"label":"td","span":{"begin":1076,"end":1078}},{"label":"td","span":{"begin":1079,"end":1080}},{"label":"tr","span":{"begin":1081,"end":1103}},{"label":"td","span":{"begin":1081,"end":1085}},{"label":"td","span":{"begin":1086,"end":1090}},{"label":"td","span":{"begin":1091,"end":1092}},{"label":"td","span":{"begin":1093,"end":1094}},{"label":"td","span":{"begin":1095,"end":1096}},{"label":"td","span":{"begin":1097,"end":1098}},{"label":"td","span":{"begin":1099,"end":1101}},{"label":"td","span":{"begin":1102,"end":1103}},{"label":"label","span":{"begin":1104,"end":1105}}],"tracks":[]}