Rund D, Kornhendler N, Shalev O, Oppenheim A
Department of Hematology, Hadassah University Hospital, Jerusalem, Israel.
Hum Genet. 1990 Oct;85(5):521-4. doi: 10.1007/BF00194229.
Molecular genetic studies were undertaken to determine the source of chromosomes carrying the sickle cell allele in Israeli patients. Analysis of restriction fragment length polymorphism (RFLP) patterns (haplotypes) along the beta-globin gene cluster was performed on 31 sickle chromosomes obtained from 10 unrelated families living in Israel. One is a Caucasian Jewish family, recently found to be carrying the sickle allele, and the other 9 are Arab families of various communities. The Jewish family, previously noted not to carry African red blood cell markers, was discovered to have the most common African haplotype of the beta-globin gene cluster, Benin. Similarly, 8 of the Arab families were also found to carry the Benin haplotype, whereas the ninth has the CAR (Central African Republic or Bantu) haplotype. The results suggest that sickle alleles in Israel originated in Africa, probably in two different regions, and migrated north into Arab and Jewish populations.
开展分子遗传学研究以确定以色列镰状细胞等位基因携带者的染色体来源。对来自以色列10个无亲缘关系家庭的31条镰状染色体进行了β珠蛋白基因簇限制性片段长度多态性(RFLP)模式(单倍型)分析。其中一个是最近发现携带镰状等位基因的高加索犹太家庭,另外9个是不同社区的阿拉伯家庭。之前指出该犹太家庭不携带非洲红细胞标记物,但发现其具有β珠蛋白基因簇最常见的非洲单倍型——贝宁单倍型。同样,8个阿拉伯家庭也被发现携带贝宁单倍型,而第九个家庭具有中非共和国或班图(CAR)单倍型。结果表明,以色列的镰状等位基因起源于非洲,可能来自两个不同地区,并向北迁移至阿拉伯人和犹太人种群。