携带Lepore波士顿基因的意大利染色体的分子特征分析。
Molecular characterization of Italian chromosomes carrying the Lepore Boston gene.
作者信息
Camaschella C, Serra A, Bertero M T, Gottardi E, Alfarano A, Revello D, Travi M, Seia M, Cremonesi L, Ferrari M
机构信息
Dipartimento di Scienze Biomediche ed Oncologia Umana, Università di Torino, Italia.
出版信息
Acta Haematol. 1989;81(3):136-9. doi: 10.1159/000205545.
Hemoglobin Lepore Boston is characterized by abnormal non-alpha-chains that are the product of a fusion delta beta gene originated from an unequal crossing over between misaligned delta and beta genes. The investigation of the restriction fragment length polymorphisms (RFLP) of the beta-globin gene cluster in 18 Italian Lepore Boston chromosomes indicates that the hybrid gene is linked to two RFLP patterns. The majority of chromosomes show a pattern which corresponds to haplotype V and a minority to haplotype I according to Orkin's classification. A single Hb Lepore Boston homozygote was homozygous for haplotype V. The two haplotypes differ only for a single site 3' to the beta cluster. Our data allow the speculation that in Italy the Lepore Boston gene might be the result of multiple recombination events.
血红蛋白Lepore波士顿型的特征是存在异常的非α链，这些非α链是由δ和β基因未对齐时发生不等交换而产生的融合δβ基因的产物。对18条意大利Lepore波士顿型染色体上β珠蛋白基因簇的限制性片段长度多态性（RFLP）进行研究表明，杂交基因与两种RFLP模式相关联。根据奥金的分类，大多数染色体显示出与单倍型V相对应的模式，少数显示为单倍型I。一名纯合血红蛋白Lepore波士顿型个体对单倍型V呈纯合状态。这两种单倍型仅在β基因簇3'端的一个位点存在差异。我们的数据推测，在意大利，Lepore波士顿型基因可能是多次重组事件的结果。
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