Haplotype analysis of α-thalassemia chromosomes reveals heterogeneity and multiple founders in Ashkenazi Jews
Tài liệu tham khảo
Carmi, 2014, Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins, Nat. Commun., 5, 4835, 10.1038/ncomms5835
Costa, 2013, A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages, Nat. Commun., 4, 2543, 10.1038/ncomms3543
Flint, 1986, High frequencies of alpha-thalassaemia are the result of natural selection by malaria, Nature, 321, 744, 10.1038/321744a0
Flint, 1992, 103
Goossens, 1981, DNA analysis in the diagnosis of hemoglobin disorders, Methods Enzymol., 76, 805, 10.1016/0076-6879(81)76159-7
Hertzberg, 1988, Alpha-globin gene haplotypes in Polynesians: their relationships to population groups and gene rearrangements, Am. J. Hum. Genet., 43, 971
Higgs, 1984, Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution, Nucleic Acids Res., 12, 6965, 10.1093/nar/12.18.6965
Higgs, 1986, Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus, Proc. Natl. Acad. Sci. U. S. A., 83, 5165, 10.1073/pnas.83.14.5165
Higgs, 1989, A review of the molecular genetics of the human alpha-globin gene cluster, Blood, 73, 1081, 10.1182/blood.V73.5.1081.1081
Kwiatkowski, 2005, How malaria has affected the human genome and what human genetics can teach us about malaria, Am. J. Hum. Genet., 77, 171, 10.1086/432519
Law, 2006, Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events, Haematologica, 91, 297
Martinson, 1995, High diversity of alpha-globin haplotypes in a Senegalese population, including many previously unreported variants, Am. J. Hum. Genet., 57, 1186
Miles, 2001, Polymerase chain reaction protocols for alpha globin haplotype polymorphisms, Br. J. Haematol., 113, 694, 10.1046/j.1365-2141.2001.02823.x
Motulsky, 1995, Jewish diseases and origins, Nat. Genet., 9, 99, 10.1038/ng0295-99
Nebel, 2005, Y chromosome evidence for a founder effect in Ashkenazi Jews, Eur. J. Hum. Genet. EJHG, 13, 388, 10.1038/sj.ejhg.5201319
Oppenheim, 1993, Sporadic alleles, including a novel mutation, characterize beta-thalassemia in Ashkenazi Jews, Hum. Mutat., 2, 155, 10.1002/humu.1380020219
Oron-Karni, 1998, Rapid detection of the common Mediterranean alpha-globin deletions/rearrangements using PCR, Am. J. Hematol., 58, 306, 10.1002/(SICI)1096-8652(199808)58:4<306::AID-AJH10>3.0.CO;2-5
Oron-Karni, 2000, Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel, Am. J. Hematol., 65, 196, 10.1002/1096-8652(200011)65:3<196::AID-AJH4>3.0.CO;2-8
Piel, 2014, The α-Thalassemias, N. Engl, J. Med., 371, 1908
Roberts-Thomson, 1996, An ancient common origin of aboriginal Australians and New Guinea highlanders is supported by alpha-globin haplotype analysis, Am. J. Hum. Genet., 58, 1017
Rund, 2004, An unexpectedly high frequency of heterozygosity for alpha-thalassemia in Ashkenazi Jews, Blood Cells. Mol. Dis., 33, 1, 10.1016/j.bcmd.2004.04.009
Sakai, 2000, Molecular analysis of alpha-thalassemia in Nepal: correlation with malaria endemicity, J. Hum. Genet., 45, 127, 10.1007/s100380050198