撒丁岛Gγ-遗传性胎儿血红蛋白持续增多症：Gγ-珠蛋白启动子保守“八聚体”序列中的T----C替换。
Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter.
作者信息
Ottolenghi S, Nicolis S, Taramelli R, Malgaretti N, Mantovani R, Comi P, Giglioni B, Longinotti M, Dore F, Oggiano L
机构信息
Dipartimento di Genetica e Biologia del Microrganismi, Università di Milano, Italy.
出版信息
Blood. 1988 Mar;71(3):815-7.
A survey of hemoglobinopathies in Northern Sardinia allowed the identification of two subjects heterozygous for a new type of G gamma hereditary persistence of fetal hemoglobin (HPFH). The G gamma-globin gene from the HPFH chromosome shows the presence of a T----C substitution 175 nucleotides upstream of the CAP site, adding a new example of single-point mutations occurring in the promoter region of the gamma-globin genes and linked to HPFH phenotypes. In this case the mutation affects the 3' end nucleotide of a conserved octamer sequence known to be present in other regulatory elements of several genes.
对撒丁岛北部血红蛋白病的一项调查发现了两名新型Gγ型胎儿血红蛋白遗传性持续存在（HPFH）杂合子个体。来自HPFH染色体的Gγ珠蛋白基因在CAP位点上游175个核苷酸处存在T→C替换，这为γ珠蛋白基因启动子区域发生的与HPFH表型相关的单点突变增添了一个新例子。在这种情况下，该突变影响了一个保守八聚体序列的3'末端核苷酸，已知该序列存在于多个基因的其他调控元件中。
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