Morle F, Jaccoud P, Dorleac E, Motta M, Delaunay J, Godet J
Hum Genet. 1984;65(3):303-7. doi: 10.1007/BF00286523.
An Algerian family with a high degree of consanguinity and including two homozygotes for Hb-G Philadelphia is presented. Whether homozygotes or heterozygotes, all subjects displayed microcytosis (with various degrees of poikilocytosis) and a moderately depressed alpha-globin chain synthesis. Hb H and Heinz bodies were absent. DNA mapping revealed the presence of a 3.7 kb deletion resulting from the rightward type of recombination event between alpha 2 and alpha 1 genes on both the alpha A/ and the alpha G/ chromosomes. Such data indicate that the -alpha A/ and -alpha G/ haplotypes are involved and suggest that the -alpha G/ haplotype, which is very rare in Algeria, has an African Black origin. In subjects with genotype (-alpha A/-alpha G) or (-alpha G/-alpha G), the output of the remaining alpha genes is sufficiently high to avoid the appearance of Hb H. This situation contrasts with that reported in an Algerian patient, who had a (-alpha A/-alpha A) genotype but who was producing Hb H (Whitelaw et al. 1980). The data collected from this family suggest that the -alpha A/ haplotypes are heterogeneous in Algerians.
本文报告了一个高度近亲结婚的阿尔及利亚家庭，其中包括两名Hb-G费城纯合子。无论是纯合子还是杂合子，所有受试者均表现出小红细胞症（伴有不同程度的异形红细胞症）和α-珠蛋白链合成中度降低。未检测到Hb H和海因茨小体。DNA图谱分析显示，在αA/和αG/染色体上，α2和α1基因之间发生向右类型的重组事件，导致出现3.7 kb的缺失。这些数据表明涉及-αA/和-αG/单倍型，并提示-αG/单倍型在阿尔及利亚非常罕见，起源于非洲黑人。在基因型为（-αA/-αG）或（-αG/-αG）的受试者中，剩余α基因的产量足够高，可避免出现Hb H。这种情况与一名阿尔及利亚患者的报告情况形成对比，该患者基因型为（-αA/-αA），但却产生Hb H（惠特劳等人，1980年）。从这个家庭收集的数据表明，在阿尔及利亚人中，-αA/单倍型是异质的。
