Gerard G, Vitrac D, Le Pendu J, Muller A, Oriol R
Am J Hum Genet. 1982 Nov;34(6):937-47.
Forty-two H-deficient individuals (lacking H antigen on erythrocytes) with anti-H in their sera were found on Reunion Island. A, B, and AB Bombay subjects had small but detectable amounts of A and/or B antigens on erythrocytes. All the H-deficient phenotypes tested were nonsecretors of ABH in their saliva, and one-third were Lewis negative. Fifty-three of the 108 (49%) unaffected members in the 14 Bombay pedigrees analyzed were se/se, showing that the families were selected for the nonsecretor trait, and suggesting that the Bombay probands used to select the families have se/se genotype. In accordance with this concept, all the children from Bombay nonsecretor x unaffected nonsecretor matings were se/se. Segregation of H and Se is compatible with the genetic model proposing that Se and H are closely linked structural genes, and the analysis of the present and previously published Bombay pedigrees strongly supports this model.
在留尼汪岛上发现了42名红细胞缺乏H抗原且血清中有抗H的个体。A、B和AB型孟买血型个体的红细胞上有少量但可检测到的A和/或B抗原。所有检测的H缺乏表型个体唾液中均不分泌ABH,且三分之一为Lewis阴性。在分析的14个孟买血型家系的108名(49%)未受影响成员中,有53名是se/se,这表明这些家系是因非分泌型性状而被选择的,也表明用于选择这些家系的孟买血型先证者具有se/se基因型。根据这一概念,孟买血型非分泌型个体与未受影响的非分泌型个体交配所生的所有子女均为se/se。H和Se的分离与提出Se和H是紧密连锁的结构基因的遗传模型相符,对当前和先前发表的孟买血型家系的分析有力地支持了这一模型。